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1. Ueda M, Kanematsu A, Nishiyama H, Yoshimura K, Watanabe K, Yorifuji T, Mikami Y, Kamoto T, Ogawa O: Testicular thecoma in an 11-year-old boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome). J Pediatr Surg; 2010 Mar;45(3):E1-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Testicular thecoma in an 11-year-old boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome).
  • We report a case of testicular thecoma in an 11-year-old Japanese boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome).
  • Ovarian thecoma-fibroma group tumors are closely associated with Gorlin syndrome or with abnormalities in PTCH, a candidate gene for the syndrome.
  • The occurrence of an extremely rare testicular thecoma in this case (the second in the literature) suggests that such an etiological association may also exist in the pathogenesis of testicular tumors.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Testicular Neoplasms / diagnosis. Thecoma / diagnosis

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  • (PMID = 20223301.001).
  • [ISSN] 1531-5037
  • [Journal-full-title] Journal of pediatric surgery
  • [ISO-abbreviation] J. Pediatr. Surg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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2. Grange DK, Clericuzio CL, Bayliss SJ, Berk DR, Heideman RL, Higginson JK, Julian S, Lind A: Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway. Am J Med Genet A; 2008 Oct 15;146A(20):2589-97
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  • [Title] Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway.
  • Curry-Jones syndrome (OMIM #601707) is a rare multiple malformation disorder of unknown etiology, associated with brain and skull abnormalities, polysyndactyly, and defects of the eyes, skin and gastrointestinal tract.
  • We report on two new cases of Curry-Jones syndrome with previously unreported features, including benign and malignant neoplasms.
  • The first patient had typical features of Curry-Jones syndrome as well as multiple intra-abdominal smooth muscle hamartomas and trichoblastoma of the skin.
  • We review the previously reported cases of Curry-Jones syndrome and compare our patients' findings.
  • In view of the association of trichoblastoma with basal cell carcinoma and desmoplastic medulloblastoma with nevoid basal cell carcinoma syndrome (NBCCS) and PTCH mutations, we hypothesize that Curry-Jones syndrome is caused by malfunction of an element in the sonic hedgehog pathway.
  • [MeSH-major] Abnormalities, Multiple. Medulloblastoma. Skin Neoplasms
  • [MeSH-minor] Agenesis of Corpus Callosum. Brain Neoplasms / etiology. Brain Neoplasms / pathology. Child, Preschool. Coloboma / etiology. Coloboma / pathology. Female. Gastrointestinal Tract / abnormalities. Hamartoma / etiology. Hamartoma / pathology. Humans. Hydrocephalus / etiology. Infant. Kruppel-Like Transcription Factors / genetics. Kruppel-Like Transcription Factors / metabolism. Male. Meningocele / etiology. Meningocele / pathology. Nerve Tissue Proteins / genetics. Nerve Tissue Proteins / metabolism. Receptors, Cell Surface / genetics. Receptors, Cell Surface / metabolism. Skull / abnormalities. Syndactyly / etiology. Syndactyly / pathology. Syndrome

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  • [Copyright] 2008 Wiley-Liss, Inc.
  • (PMID = 18798318.001).
  • [ISSN] 1552-4833
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / GLI3 protein, human; 0 / Kruppel-Like Transcription Factors; 0 / Nerve Tissue Proteins; 0 / Receptors, Cell Surface; 0 / patched receptors
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3. Matsuzawa N, Nagao T, Shimozato K, Niikawa N, Yoshiura KI: Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. J Clin Pathol; 2006 Oct;59(10):1084-6
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  • [Title] Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.
  • AIM: To search for patched homologue 1 (PTCH1) mutations in four families with basal cell nevus syndrome (BCNS).
  • METHODS: Mutation analysis of PTCH1 in unrelated Japanese families affected with BCNS was carried out by direct sequencing.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation. Receptors, Cell Surface / genetics

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  • (PMID = 17021131.001).
  • [ISSN] 0021-9746
  • [Journal-full-title] Journal of clinical pathology
  • [ISO-abbreviation] J. Clin. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Other-IDs] NLM/ PMC1861741
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4. Lü Y, Zhu HG, Ye WM, Zhang MB, He D, Chen WT: A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome. Chin Med J (Engl); 2008 Jan 20;121(2):118-21
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  • [Title] A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation.
  • Mutation of patched gene (PTCH), considered the molecular defect of NBCCS, in a Chinese NBCCS family was investigated in this study.
  • CONCLUSIONS: Our findings suggest that one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation. Receptors, Cell Surface / genetics

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  • (PMID = 18272036.001).
  • [ISSN] 0366-6999
  • [Journal-full-title] Chinese medical journal
  • [ISO-abbreviation] Chin. Med. J.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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5. Chen YH, Wang YH, Yu TH, Wu HJ, Pai CW: Transgenic zebrafish line with over-expression of Hedgehog on the skin: a useful tool to screen Hedgehog-inhibiting compounds. Transgenic Res; 2009 Dec;18(6):855-64
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  • Later (by 7 dpf), Tg(k18:shh:RFP) embryos displayed broader pectoral fins which are similar to the polydactyly phenotypes of Nevoid basal cell carcinoma syndrome (NBCCS)/Gorlin patients and polydactylous mice.
  • [MeSH-major] Carcinoma, Basal Cell / drug therapy. Embryo, Nonmammalian / metabolism. Hedgehog Proteins / antagonists & inhibitors. Hedgehog Proteins / genetics. Skin / metabolism. Zebrafish / genetics
  • [MeSH-minor] Animals. Animals, Genetically Modified / metabolism. Disease Models, Animal. Drug Evaluation, Preclinical. Keratin-18 / genetics. Luminescent Proteins / genetics. Teratogens. Veratrum Alkaloids

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  • (PMID = 19412740.001).
  • [ISSN] 1573-9368
  • [Journal-full-title] Transgenic research
  • [ISO-abbreviation] Transgenic Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / Keratin-18; 0 / Luminescent Proteins; 0 / SHH protein, human; 0 / Teratogens; 0 / Veratrum Alkaloids; ZH658AJ192 / cyclopamine
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6. Cajaiba MM, Bale AE, Alvarez-Franco M, McNamara J, Reyes-Múgica M: Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome. Nat Clin Pract Oncol; 2006 Oct;3(10):575-80
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  • [Title] Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome.
  • DIAGNOSIS: Gorlin syndrome with synchronous rhabdomyosarcoma and Wilms tumor.
  • MANAGEMENT: Left nephrectomy, excision of paravesical tumor, excision of mandibular cysts, chemotherapy, and radiotherapy.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Kidney Neoplasms / surgery. Rhabdomyosarcoma / surgery. Wilms Tumor / surgery
  • [MeSH-minor] Bone Cysts / complications. Child, Preschool. Female. Humans. Macroglossia / etiology. Mandible. Receptors, Cell Surface / genetics

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  • (PMID = 17019435.001).
  • [ISSN] 1743-4262
  • [Journal-full-title] Nature clinical practice. Oncology
  • [ISO-abbreviation] Nat Clin Pract Oncol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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7. So PL, Fujimoto MA, Epstein EH Jr: Pharmacologic retinoid signaling and physiologic retinoic acid receptor signaling inhibit basal cell carcinoma tumorigenesis. Mol Cancer Ther; 2008 May;7(5):1275-84
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  • [Title] Pharmacologic retinoid signaling and physiologic retinoic acid receptor signaling inhibit basal cell carcinoma tumorigenesis.
  • Basal cell carcinoma (BCC) is the most common human cancer.
  • Patients with basal cell nevus syndrome (Gorlin syndrome) are highly susceptible to developing many BCCs as a result of a constitutive inactivating mutation in one allele of PATCHED 1, which encodes a tumor suppressor that is a major inhibitor of Hedgehog signaling.
  • Dysregulated Hedgehog signaling is a common feature of both hereditary and sporadic BCCs.
  • Recently, we showed remarkable anti-BCC chemopreventive efficacy of tazarotene, a retinoid with retinoic acid receptor (RAR) beta/gamma specificity, in Ptch1+/- mice when treatment was commenced before carcinogenic insults.
  • In this study, we assessed whether the effect of tazarotene against BCC carcinogenesis is sustained after its withdrawal and whether tazarotene is effective against preexisting microscopic BCC lesions.
  • In vitro, tazarotene inhibited a murine BCC keratinocyte cell line, ASZ001, suggesting that its effect in vivo is by direct action on the actual tumor cells.
  • Finally, we investigated the effects of topical applications of other retinoid-related compounds on BCC tumorigenesis in vivo.
  • Furthermore, inhibition of basal RAR signaling in the skin promoted BCC carcinogenesis, suggesting that endogenous RAR signaling restrains BCC growth.

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  • (PMID = 18483315.001).
  • [ISSN] 1535-7163
  • [Journal-full-title] Molecular cancer therapeutics
  • [ISO-abbreviation] Mol. Cancer Ther.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA109584-06; United States / NCI NIH HHS / CA / U19 CA081888; United States / NCI NIH HHS / CA / CA109584; United States / NCI NIH HHS / CA / CA81888; United States / NCI NIH HHS / CA / R01 CA109584
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anticarcinogenic Agents; 0 / Hedgehog Proteins; 0 / Nicotinic Acids; 0 / Receptors, Retinoic Acid; 0 / Retinoids; 81BDR9Y8PS / tazarotene
  • [Other-IDs] NLM/ NIHMS354844; NLM/ PMC4457328
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8. de Lima JL, Dias-Ribeiro E, Honfi ES, de Araújo TN, de Góes KK, Aragão Mdo S: Odontogenic Keratocyst of mandible. Indian J Otolaryngol Head Neck Surg; 2006 Oct;58(4):373-6
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  • [Title] Odontogenic Keratocyst of mandible.
  • The Odontogenic Keratocyst is a developmental odontogenic cyst and deserves special attention because of its peculiar histopathologic features and biologic behavior.
  • It is believed that the Odontogenic Keratocyst arises from the proliferation of remnants of dental lamina.
  • It is usually asymptomatic, and solitary lesion, however, it may be associated with Nevoid Basal Cell Carcinoma Syndrome.
  • This work aimed to present a case of a very extensive Odontogenic Keratocyst in a 28-year-old woman.

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  • (PMID = 23120352.001).
  • [ISSN] 2231-3796
  • [Journal-full-title] Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
  • [ISO-abbreviation] Indian J Otolaryngol Head Neck Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC3450362
  • [Keywords] NOTNLM ; basal cell carcinoma / odontogenic cysts / odontogenic keratocyst
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9. Lamon T, Gerard S, Meyer N, Losfeld B, Abellan van Kan G, Balardy L, Vellas B: Exceptional bone metastasis of basal cell carcinoma in Gorlin-Goltz syndrome. Dermatology; 2010;220(1):57-9
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  • [Title] Exceptional bone metastasis of basal cell carcinoma in Gorlin-Goltz syndrome.
  • BACKGROUND: Basal cell carcinoma (BCC), the most prevalent form of cancer worldwide, is a malignant skin neoplasm.
  • It can also be part of the Gorlin-Goltz syndrome, an autosomal dominant genetic disorder with high penetrance and variable expressivity, which is principally characterized by cutaneous BCC, odontogenic keratocysts, palmar and/or plantar pits, and falx cerebri calcification.
  • OBSERVATION: We report the exceptional clinical observation of a 54-year-old man presenting bone metastasis from BCC in Gorlin-Goltz syndrome.
  • CONCLUSION: Less than 300 cases of metastatic BCC have been reported in the literature.
  • The present case is the second associated with Gorlin-Goltz syndrome.
  • [MeSH-major] Bone Neoplasms / secondary. Carcinoma, Basal Cell / secondary. Focal Dermal Hypoplasia / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] European Continental Ancestry Group. Humans. Male. Middle Aged. Neoplasm Metastasis. Pain / etiology. Receptors, Cell Surface / genetics

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  • [Copyright] Copyright 2009 S. Karger AG, Basel.
  • (PMID = 19996568.001).
  • [ISSN] 1421-9832
  • [Journal-full-title] Dermatology (Basel, Switzerland)
  • [ISO-abbreviation] Dermatology (Basel)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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10. Alghamdi Y: Skin tags as a presenting sign of basal cell nevus syndrome in three sisters of the same family. Ann Saudi Med; 2008 Mar-Apr;28(2):132-4
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  • [Title] Skin tags as a presenting sign of basal cell nevus syndrome in three sisters of the same family.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Carcinoma, Basal Cell / diagnosis. Skin Neoplasms / diagnosis

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  • (PMID = 18398273.001).
  • [ISSN] 0256-4947
  • [Journal-full-title] Annals of Saudi medicine
  • [ISO-abbreviation] Ann Saudi Med
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Saudi Arabia
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11. Kolár Z, Geierová M, Bouchal J, Pazdera J, Zboril V, Tvrdý P: Immunohistochemical analysis of the biological potential of odontogenic keratocysts. J Oral Pathol Med; 2006 Feb;35(2):75-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Immunohistochemical analysis of the biological potential of odontogenic keratocysts.
  • BACKGROUND: The aim of this study was to analyse the usefulness of detecting important apoptosis and proliferation markers in assessing the biological potential of odontogenic keratocysts (OKC) and thus selecting the optimal diagnostic algorithm for these lesions.
  • RESULTS: Nevoid basal cell carcinoma syndrome (NBCCS) keratocysts were characterized by higher expression of Bcl-2, p27Kip1 and c-erbB-2 as well as by lower proliferative activity measured by Ki-67 in basal cell epithelium and by a lower inflammatory response in comparison with sporadic keratocysts.
  • Dentigerous, radicular and non-specified odontogenic cysts differed from both NBCCS and sporadic keratocysts in a wide spectrum of apoptosis and/or cell cycle-related protein expressions, higher proliferation in the basal cell layer, and vice versa, lower proliferation in the suprabasal cell layer.
  • CONCLUSIONS: The NBCCS keratocysts have a different immunophenotype from sporadic keratocysts and both types are distinguishable from dentigerous, radicular and non-specified odontogenic cysts.
  • [MeSH-major] Odontogenic Cysts / pathology
  • [MeSH-minor] Apoptosis / physiology. Apoptosis Regulatory Proteins / analysis. Basal Cell Nevus Syndrome / metabolism. Basal Cell Nevus Syndrome / pathology. Biology. Biomarkers / analysis. Cell Cycle Proteins / analysis. Cell Proliferation. Cyclin-Dependent Kinase Inhibitor p27 / analysis. Dentigerous Cyst / chemistry. Dentigerous Cyst / pathology. Diagnosis, Differential. Epithelium / chemistry. Epithelium / pathology. Humans. Immunohistochemistry. Immunophenotyping. Ki-67 Antigen / analysis. Prognosis. Protein Kinase Inhibitors / analysis. Proto-Oncogene Proteins c-bcl-2 / analysis. Radicular Cyst / chemistry. Radicular Cyst / pathology. Receptor, ErbB-2 / analysis

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  • (PMID = 16430736.001).
  • [ISSN] 0904-2512
  • [Journal-full-title] Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
  • [ISO-abbreviation] J. Oral Pathol. Med.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Apoptosis Regulatory Proteins; 0 / Biomarkers; 0 / Cell Cycle Proteins; 0 / Ki-67 Antigen; 0 / Protein Kinase Inhibitors; 0 / Proto-Oncogene Proteins c-bcl-2; 147604-94-2 / Cyclin-Dependent Kinase Inhibitor p27; EC 2.7.10.1 / Receptor, ErbB-2
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12. Caro I, Low JA: The role of the hedgehog signaling pathway in the development of basal cell carcinoma and opportunities for treatment. Clin Cancer Res; 2010 Jul 1;16(13):3335-9
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  • [Title] The role of the hedgehog signaling pathway in the development of basal cell carcinoma and opportunities for treatment.
  • The hedgehog (Hh) signaling pathway plays an important role in embryogenesis across multiple species.
  • However, activation of the pathway has been shown to be a factor in the development of a number of human malignancies and inhibition of the pathway is being investigated as a potential treatment for multiple cancers.
  • The most extensively investigated and best characterized is basal cell carcinoma (BCC), which occurs in both an inherited form (basal cell nevus syndrome or Gorlin's syndrome) and a sporadic form.
  • There is recent data available on the use of a small molecule inhibitor of the pathway in BCC.
  • [MeSH-major] Carcinoma, Basal Cell / metabolism. Hedgehog Proteins / metabolism. Skin Neoplasms / metabolism
  • [MeSH-minor] Basal Cell Nevus Syndrome / metabolism. Humans. Ligands. Receptors, G-Protein-Coupled / metabolism. Signal Transduction

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  • (PMID = 20439455.001).
  • [ISSN] 1078-0432
  • [Journal-full-title] Clinical cancer research : an official journal of the American Association for Cancer Research
  • [ISO-abbreviation] Clin. Cancer Res.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / Ligands; 0 / Receptors, G-Protein-Coupled; 0 / SMO protein, human
  • [Number-of-references] 25
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13. González Moles MA, Mosqueda-Taylor A, Esteban F, Gil-Montoya JA, Díaz-Franco MA, Delgado M, Muñoz M: Cell proliferation associated with actions of the substance P/NK-1 receptor complex in keratocystic odontogenic tumours. Oral Oncol; 2008 Dec;44(12):1127-33
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  • [Title] Cell proliferation associated with actions of the substance P/NK-1 receptor complex in keratocystic odontogenic tumours.
  • The expression of substance P (SP) and its NK-1 receptor (NK-1R) in keratocystic odontogenic tumours (KOTs) was studied to determine whether the intrinsic growth potential of these lesions is related to a cell proliferation stimulus mediated by the SP/NK-1R complex.
  • A total of 65 tissue samples of solitary non-recurrent KOTs, solitary recurrent KOTs, KOTs associated with nevoid basal cell carcinoma syndrome (NBCCS) and KOTs with chondroid wall were studied by immunohistochemistry, using anti-SP, anti-NK-1R and anti-Ki-67 monoclonal antibodies.
  • KOTs associated with NBCCS showed a significantly higher SP expression in all tissues and cell compartments compared with other KOT types.
  • This first published report on SP and NK-1R expressions in KOTs demonstrates that actions of the SP/NK-1R complex may constitute a mechanism to stimulate epithelial cell proliferation in KOT.
  • This pathway may be of special relevance in the multiple KOTs associated with NBCCS.
  • [MeSH-major] Carcinoma, Basal Cell / metabolism. Neoplasm Proteins / metabolism. Odontogenic Tumors / metabolism. Receptors, Neurokinin-1 / metabolism. Substance P / metabolism
  • [MeSH-minor] Adult. Cell Proliferation / drug effects. Epithelial Cells / metabolism. Female. Gene Expression Regulation, Neoplastic / genetics. Humans. Immunohistochemistry. Male

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  • (PMID = 18486533.001).
  • [ISSN] 1879-0593
  • [Journal-full-title] Oral oncology
  • [ISO-abbreviation] Oral Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Neoplasm Proteins; 0 / Receptors, Neurokinin-1; 33507-63-0 / Substance P
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14. Xie WH, Ren GX, Li SJ, Zhang J, Huang W, Guo W: [Genetic linkage analysis and mutation detection in Chinese families with basal cell nevus syndrome]. Zhonghua Kou Qiang Yi Xue Za Zhi; 2006 Oct;41(10):596-8
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  • [Title] [Genetic linkage analysis and mutation detection in Chinese families with basal cell nevus syndrome].
  • OBJECTIVE: To study the molecular genetic etiology of a Chinese pedigree with basal cell nevus syndrome.
  • CONCLUSIONS: In this pedigree, mutation of PTCH gene is not related to the underlying pathogenesis of the syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Genetic Linkage. Receptors, Cell Surface / genetics

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  • (PMID = 17129446.001).
  • [ISSN] 1002-0098
  • [Journal-full-title] Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
  • [ISO-abbreviation] Zhonghua Kou Qiang Yi Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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15. Wang XX, Zhang J, Wei FC: Familial multiple odontogenic keratocysts. J Dent Child (Chic); 2007 May-Aug;74(2):140-2
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  • [Title] Familial multiple odontogenic keratocysts.
  • Multiple odontogenic keratocysts (OKCs) are principle features of nevoid basal cell carcinoma syndrome (NBCCS; Gorlin-Goltz syndrome).
  • NBCCS is a genetic disorder transmitted by an autosomal dominant gene with variable expressivity, which is important to recognize when a patient has multiple OKCs.
  • The cysts of the jaws are among the most common findings.
  • Before-therapy diagnosis is, therefore, as important as after-therapy diagnosis.
  • The purpose of this paper was to present a family case report of nevoid basal cell carcinoma syndrome with multiple odontogenic keratocysts.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Jaw Cysts / complications

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  • (PMID = 18477436.001).
  • [ISSN] 1935-5068
  • [Journal-full-title] Journal of dentistry for children (Chicago, Ill.)
  • [ISO-abbreviation] J Dent Child (Chic)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 68238-35-7 / Keratins
  • [Number-of-references] 10
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16. Campbell RM, DiGiovanna JJ: Skin cancer chemoprevention with systemic retinoids: an adjunct in the management of selected high-risk patients. Dermatol Ther; 2006 Sep-Oct;19(5):306-14
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  • Systemic retinoids (isotretinoin, etretinate, and acitretin) have been shown to be effective chemotherapeutic agents in studies of patients with xeroderma pigmentosum, the nevoid basal cell carcinoma syndrome, and recipients of organ or bone marrow transplantation.
  • Long-term toxicity, primarily involving the skeletal system, can be monitored with imaging studies.

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  • (PMID = 17014486.001).
  • [ISSN] 1396-0296
  • [Journal-full-title] Dermatologic therapy
  • [ISO-abbreviation] Dermatol Ther
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Retinoids
  • [Number-of-references] 38
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17. Mentzel T, Kutzner H, Requena L, Hartmann A: [Skin tumors as marker lesions for tumor syndromes]. Pathologe; 2010 Oct;31(6):489-96
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  • [Title] [Skin tumors as marker lesions for tumor syndromes].
  • A number of hereditary tumor syndromes are associated with characteristic dermal neoplasms and knowledge and early diagnosis of these lesions may facilitate the diagnostic of the underlying syndrome.
  • These syndromes include Muir-Torre syndrome, associated with cystic sebaceomas, Cowden syndrome, associated with multiple tricholemmomas, Carney complex associated with multiple superficial angiomyxomas, Birt-Hogg-Dubé syndrome associated with multiple fibrofolliculomas, tuberous sclerosis associated with multiple facial angiofibromas and so-called Koenen tumors, patients with renal cell cancer associated with pilar leiomyomatosis and uterine leiomyomas, Gardner syndrome associated with Gardner fibromas and nevoid basal cell carcinoma associated with multiple basal cell carcinomas in young patients.
  • [MeSH-minor] Angiofibroma / pathology. Basal Cell Nevus Syndrome / pathology. Birt-Hogg-Dube Syndrome / pathology. Carcinoma, Basal Cell / pathology. Epidermis / pathology. Hamartoma Syndrome, Multiple / pathology. Humans. Kidney Neoplasms / pathology. Leiomyoma / pathology. Male. Muir-Torre Syndrome / pathology. Myxoma / pathology. Syndrome

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  • (PMID = 20960199.001).
  • [ISSN] 1432-1963
  • [Journal-full-title] Der Pathologe
  • [ISO-abbreviation] Pathologe
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
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18. Nowakowska B, Kutkowska-Kaźmierczak A, Stankiewicz P, Bocian E, Obersztyn E, Ou Z, Cheung SW, Cai WW: A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. Am J Med Genet A; 2007 Aug 15;143A(16):1885-9
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  • Here, we present a 12-year-old girl with features of basal cell nevus syndrome (BCNS), pulmonary valve stenosis, and MR, in whom array-CGH identified a 7.7 Mb deletion on 9q22.1-q22.32.
  • Haploinsufficiency of PTCH causes the BCNS syndrome and mutations in ROR2 have been found in an autosomal recessive Robinow syndrome and a dominantly inherited brachydactyly type 1B.
  • Because of an age-dependent penetrance, BCNS may be challenging for diagnosis particularly when the features are not part of a typical clinical spectrum of BCNS.
  • Early diagnosis of BCNS is important for preventing the development of associated tumors and better care of the patient.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Chromosome Deletion. Chromosomes, Human, Pair 9. Intellectual Disability / genetics. Receptors, Cell Surface / genetics
  • [MeSH-minor] Abnormalities, Multiple / diagnosis. Abnormalities, Multiple / genetics. Child. Chromosomes, Artificial, Bacterial. Facies. Female. Genome, Human. Humans. In Situ Hybridization, Fluorescence. Oligonucleotide Array Sequence Analysis / methods. Receptor Tyrosine Kinase-like Orphan Receptors

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  • [Copyright] (c) 2007 Wiley-Liss, Inc.
  • (PMID = 17632781.001).
  • [ISSN] 1552-4825
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] eng
  • [Grant] United States / NICHD NIH HHS / HD / HD24064
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / ROR2 protein, human; 0 / Receptors, Cell Surface; 0 / patched receptors; EC 2.7.10.1 / Receptor Tyrosine Kinase-like Orphan Receptors
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19. Mateus GC, Lanza GH, de Moura PH, Marigo Hde A, Horta MC: Cell proliferation and apoptosis in keratocystic odontogenic tumors. Med Oral Patol Oral Cir Bucal; 2008 Nov;13(11):E697-702
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  • [Title] Cell proliferation and apoptosis in keratocystic odontogenic tumors.
  • OBJECTIVES: Keratocystic odontogenic tumors (KOTs), also known as odontogenic keratocysts, were recently classified as a benign neoplasia due to the aggressive clinical behavior.
  • Therefore, the aim of this study is to evaluate and compare the proliferation index (PI) and the apoptotic index (AI) of the epithelial lining in sporadic KOTs, KOTs associated with the Nevoid Basal Cell Carcinoma Syndrome (NBCCS KOTs), and dentigerous cysts.
  • MATERIAL AND METHODS: A total of 11 sporadic KOTs, 15 NBCCS KOTs, and 11 dentigerous cysts were evaluated.
  • The PI was assessed by immunohistochemical detection of the cell proliferation marker Ki-67.
  • Differences in the PI and the AI between sporadic KOTs, NBCCS KOTs, and dentigerous cysts were analyzed using the Kruskal-Wallis test.
  • RESULTS: The PI and AI were higher in sporadic and NBCCS KOTs than in dentigerous cysts.
  • No difference in these indexes was observed between sporadic and NBCCS KOTs.
  • In dentigerous cysts, the PI was higher in the basal layer.
  • In sporadic and NBCCS KOTs, the PI was higher in suprabasal layer.
  • No difference in the AI was observed between the basal layer and the suprabasal layer in the three lesions.
  • The AI was higher in the superficial layer of sporadic and NBCCS KOTs.
  • CONCLUSIONS: The present study demonstrates that the epithelial lining of KOTs shows a distinct pattern of cell proliferation and apoptosis, reflecting its high cell turnover and reinforcing its classification as an odontogenic tumor.
  • [MeSH-major] Apoptosis. Basal Cell Nevus Syndrome / pathology. Cell Proliferation. Mouth Neoplasms / pathology. Odontogenic Tumors / pathology


20. Prodinger PM, Sarbia M, Massmann J, Straka C, Meyer G, Steinlein OK: Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature. BMC Cancer; 2010;10:360
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  • [Title] Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature.
  • BACKGROUND AND CASE PRESENTATION: A patient with nevoid basal cell carcinoma syndrome (Gorlin syndrome) presented with two unusual clinical features, i.e. adenocarcinoma of the small bowel and extensive mesenchymal proliferation of the lower gastrointestinal tract.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Cell Proliferation. Gastrointestinal Tract / pathology. Intestinal Neoplasms / pathology. Intestine, Small / pathology. Mesoderm / pathology
  • [MeSH-minor] Germ-Line Mutation / genetics. Humans. Male. Middle Aged. Prognosis. Receptors, Cell Surface / genetics. Review Literature as Topic

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  • (PMID = 20609239.001).
  • [ISSN] 1471-2407
  • [Journal-full-title] BMC cancer
  • [ISO-abbreviation] BMC Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Other-IDs] NLM/ PMC2912266
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21. Mohtasham N, Nemati S, Jamshidi S, Habibi A, Johari M: Odontogenic keratocysts in Nevoid basal cell carcinoma syndrome: a case report. Cases J; 2009;2:9399
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  • [Title] Odontogenic keratocysts in Nevoid basal cell carcinoma syndrome: a case report.
  • Nevoid basal cell carcinoma syndrome, a rare autosomal dominant disorder, comprises a number of abnormalities such as multiple nevoid basal cell carcinomas, skeletal abnormalities and multiple odontogenic keratocysts.
  • Considering the rarity of this syndrome, we present a 12-year-old boy affected by this syndrome.
  • He had multiple okcs, calcification of falx cerebri, bifid ribs, frontal bossing and hypertelorism.
  • Characteristic cutaneous manifestation (nevoid basal cell carcinoma) was not present in this patient.
  • The jaw cysts were treated with marsupialization then enucleation.
  • The dental clinician may be the first to encounter and identify this syndrome, when the multiple cystlike radiolucencies are discovered on panoramic view.

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  • (PMID = 20111613.001).
  • [ISSN] 1757-1626
  • [Journal-full-title] Cases journal
  • [ISO-abbreviation] Cases J
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2813242
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22. Hayes D Jr: Obstructive sleep apnea in a patient with basal cell nevus syndrome. J Ky Med Assoc; 2006 Jul;104(7):291-2
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  • [Title] Obstructive sleep apnea in a patient with basal cell nevus syndrome.
  • A 20-year-old male with basal cell nevus syndrome (also known as Gorlin-Goltz Syndrome) was evaluated for snoring, daytime hypersomnolence, and poorly controlled hypertension.
  • Nocturnal polysomnography confirmed obstructive sleep apnea syndrome with correction of symptoms with nasal bilevel positive pressure ventilation.
  • Assessment for sleep disordered breathing is imperative in ongoing care for patients with this disorder.
  • [MeSH-major] Basal Cell Nevus Syndrome. Sleep Apnea, Obstructive / diagnosis

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  • (PMID = 16886881.001).
  • [ISSN] 0023-0294
  • [Journal-full-title] The Journal of the Kentucky Medical Association
  • [ISO-abbreviation] J Ky Med Assoc
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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23. Li TJ, Sun LS, Luo HY, Yuan JW, Gao L, Gu XM, Li XF, Xu LL: [Studies on keratocystic odontogenic tumors]. Beijing Da Xue Xue Bao; 2009 Feb 18;41(1):16-20
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  • [Title] [Studies on keratocystic odontogenic tumors].
  • Keratocystic odontogenic tumors (KCOTs, previously known as odontogenic keratocysts) are aggressive, noninflammatory jaw lesions with a putative high growth potential and a propensity for recurrence.
  • Intraosseous jaw cysts with a solely orthokeratinized lining epithelium have been suggested to differ from the typical KCOTs.
  • We report 20 cases of such cyst type under the term of 'orthokeratinized odontogenic cyst (OOC)'.
  • Apart from the presence of a keratinizing epithelial lining, the OOC lacks the other histological features of KCOT, exhibits little if any tendency to recur, has no apparent association with NBCCS, may be cured by simple enucleation, and may thus constitute its own clinical entity.
  • Mutations in PTCH1 gene are responsible for NBCCS and are related in tumors associated with this syndrome.
  • We have so far detected 26 PTCH1 mutations (2 mutations occurred twice) in 10 out of 34 (29.4%) sporadic and 14 out of 16 (87.5%) NBCCS-associated KCOTs.
  • Two missense mutations in PTCH2 were also detected in 2 out of 15 NBCCS related KCOT patients.
  • The results indicate that odontogenic lesions could promote bone resorption in vitro and it is likely to be related to some of the cytokines secreted by the lesions.
  • [MeSH-major] Jaw Neoplasms / genetics. Mutation. Odontogenic Cysts / genetics. Odontogenic Tumors / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 19221557.001).
  • [ISSN] 1671-167X
  • [Journal-full-title] Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
  • [ISO-abbreviation] Beijing Da Xue Xue Bao
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / Receptors, G-Protein-Coupled; 0 / SMO protein, human; 0 / patched receptors
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24. Kaminaka C, Yamamoto Y, Furukawa F: Nevoid basal cell carcinoma syndrome successfully treated with trichloroacetic acid and phenol peeling. J Dermatol; 2007 Dec;34(12):841-3
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  • [Title] Nevoid basal cell carcinoma syndrome successfully treated with trichloroacetic acid and phenol peeling.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Caustics / therapeutic use. Phenol / therapeutic use. Sclerosing Solutions / therapeutic use. Skin Neoplasms / drug therapy. Trichloroacetic Acid / therapeutic use

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  • (PMID = 18078412.001).
  • [ISSN] 0385-2407
  • [Journal-full-title] The Journal of dermatology
  • [ISO-abbreviation] J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / Caustics; 0 / Sclerosing Solutions; 339NCG44TV / Phenol; 5V2JDO056X / Trichloroacetic Acid
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25. Aram S, Moghaddam NA: Bilateral ovarian fibroma associated with Gorlin syndrome. J Res Med Sci; 2009 Jan;14(1):57-61
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  • [Title] Bilateral ovarian fibroma associated with Gorlin syndrome.
  • Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare inherited multisystem disorder.
  • This paper presents a 22-years-old Iranian woman with this syndrome whose past history was multiple keratocysts of maxillary bone.
  • Accurate diagnosis is only possible with close attention to the familial and past medical history and physical examination.

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  • [Cites] Am Fam Physician. 2002 Jun 15;65(12):2501-4 [12086239.001]
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  • (PMID = 21772861.001).
  • [ISSN] 1735-1995
  • [Journal-full-title] Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences
  • [ISO-abbreviation] J Res Med Sci
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Iran
  • [Other-IDs] NLM/ PMC3129069
  • [Keywords] NOTNLM ; Gorlin syndrome / multiple keratocysts / ovarian fibroma
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26. Xu LL, Li TJ: [PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome]. Beijing Da Xue Xue Bao; 2008 Feb 18;40(1):15-8
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  • [Title] [PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome].
  • OBJECTIVE: To investigate alterations in PTCH2 in keratocystic odontogenic tumors (KCOT) associated with nevoid basal cell carcinoma syndrome (NBCCS).
  • METHODS: Genomic DNA was extracted from samples of frozen lesion tissues and peripheral blood of 15 NBCCS patients with multiple KCOTs.
  • CONCLUSION: Although not as frequent as PTCH1 mutations, PTCH2 germline mutations were detectable in a subset of NBCCS patients with KCOTs.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Odontogenic Cysts / genetics. Odontogenic Tumors / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 18278130.001).
  • [ISSN] 1671-167X
  • [Journal-full-title] Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
  • [ISO-abbreviation] Beijing Da Xue Xue Bao
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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27. Wang W, Wang J, Li J, Mao L, Guo F, Zhang B: New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome. Br J Oral Maxillofac Surg; 2009 Jul;47(5):366-9
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  • [Title] New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome.
  • Naevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant mode characterised by a combination of developmental anomalies and a predisposition to form tumours.
  • Our aim was to search for patched homologue 1 (PTHC1) mutations in a Chinese family with NBCCS.
  • Our findings suggest that the 3146A-->T mutation in the PTCH gene may be the cause of NBCCS by affecting the conformation and function of the PTCH protein.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation / genetics. Receptors, Cell Surface / genetics
  • [MeSH-minor] Adenine. Chromosomes, Human, Pair 9 / genetics. Codon, Nonsense / genetics. Cytosine. Exons / genetics. Humans. Jaw Diseases / genetics. Odontogenic Cysts / genetics. Pedigree. Protein Biosynthesis / genetics. Protein Conformation. Thymine. Tumor Suppressor Proteins / genetics

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  • (PMID = 19008023.001).
  • [ISSN] 1532-1940
  • [Journal-full-title] The British journal of oral & maxillofacial surgery
  • [ISO-abbreviation] Br J Oral Maxillofac Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Scotland
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / Receptors, Cell Surface; 0 / Tumor Suppressor Proteins; 0 / patched receptors; 8J337D1HZY / Cytosine; JAC85A2161 / Adenine; QR26YLT7LT / Thymine
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28. Kiiski V, de Vries E, Flohil SC, Bijl MJ, Hofman A, Stricker BH, Nijsten T: Risk factors for single and multiple basal cell carcinomas. Arch Dermatol; 2010 Aug;146(8):848-55
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  • [Title] Risk factors for single and multiple basal cell carcinomas.
  • OBJECTIVE: To investigate the incidence of single and multiple basal cell carcinoma (BCC) lesions and associated risk factors.
  • PATIENTS: Patients with BCC lesions were identified from the Dutch national pathology laboratories network, hospitals, and general practices.
  • MAIN OUTCOME MEASURES: The associations between determinants and single and multiple BCC lesions were studied by estimating odds ratios (ORs) and hazards ratios, using multivariate logistic regression and Andersen-Gill models, respectively.
  • RESULTS: Of the eligible 10 820 cohort members, 524 (4.8%) had BCC, of whom 361 had single and 163 (31.1%) had multiple lesions.
  • Age and red hair were significant risk factors for a first BCC lesion in a multivariate model.
  • In the Andersen-Gill model, people who developed a first BCC lesion after 75.0 years of age were significantly less likely to develop multiple lesions (> or =75.0 years adjusted OR, 0.58; 95% confidence interval [CI], 0.47-0.71).
  • Red hair (adjusted OR, 1.43; 95% CI, 1.05-1.94), high educational level (1.42; 1.12-1.81), and a first BCC lesion located on the upper extremities (1.49; 1.02-2.15) were associated with a significantly increased risk of developing multiple lesions.
  • CONCLUSION: Patients who are relatively young at their first BCC diagnosis, those with red hair, those with higher socioeconomic status, and/or those with a BCC lesion on their upper extremities have a higher risk of developing multiple lesions and require closer follow-up over time.
  • [MeSH-major] Carcinoma, Basal Cell / epidemiology. Neoplasms, Multiple Primary / epidemiology. Skin Neoplasms / etiology

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  • (PMID = 20713815.001).
  • [ISSN] 1538-3652
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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29. Jacobzone-Lévêque C, Lévêque E, Misery L, Sassolas B: [Multiple basal cell carcinomas without radiodermatitis and pulmonary tuberculosis: the role of previous repeated fluoroscopic examinations]. Ann Dermatol Venereol; 2007 Jun-Jul;134(6-7):573-5
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  • [Title] [Multiple basal cell carcinomas without radiodermatitis and pulmonary tuberculosis: the role of previous repeated fluoroscopic examinations].
  • [MeSH-major] Carcinoma, Basal Cell / diagnosis. Fluoroscopy. Neoplasms, Multiple Primary / diagnosis. Radiodermatitis. Skin Neoplasms / diagnosis. Tuberculosis, Pulmonary / complications

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  • (PMID = 17657189.001).
  • [ISSN] 0151-9638
  • [Journal-full-title] Annales de dermatologie et de vénéréologie
  • [ISO-abbreviation] Ann Dermatol Venereol
  • [Language] fre
  • [Publication-type] Case Reports; Letter
  • [Publication-country] France
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30. Burgdorf WH: Cancer-associated genodermatoses: a personal history. Exp Dermatol; 2006 Sep;15(9):653-66
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  • The historical, clinical and dermatopathological aspects of basal cell nevus syndrome, Muir-Torre syndrome, Cowden syndrome, Carney complex and Birt-Hogg-Dubé syndrome are reviewed in a personal and informal fashion.
  • [MeSH-major] Neoplastic Syndromes, Hereditary / diagnosis. Skin Diseases, Genetic / diagnosis
  • [MeSH-minor] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / physiopathology. Hamartoma Syndrome, Multiple / diagnosis. Hamartoma Syndrome, Multiple / physiopathology. Humans. Skin / pathology

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  • (PMID = 16881962.001).
  • [ISSN] 0906-6705
  • [Journal-full-title] Experimental dermatology
  • [ISO-abbreviation] Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Denmark
  • [Number-of-references] 93
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31. Mseddi M, Dammak A, Marrekchi S, Bouassida S, Masmoudi A, Turki H, Zahaf A: [Basal cell nevus syndrome: diagnosis and treatment]. Tunis Med; 2008 Jul;86(7):724-5
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  • [Title] [Basal cell nevus syndrome: diagnosis and treatment].
  • [Transliterated title] La Noevomatose basocellulaire: particularités cliniques, diagnostiques et thérapeutique.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / surgery

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  • (PMID = 19472747.001).
  • [ISSN] 0041-4131
  • [Journal-full-title] La Tunisie médicale
  • [ISO-abbreviation] Tunis Med
  • [Language] fre
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Tunisia
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32. Mosterd K, Thissen MR, Nelemans P, Kelleners-Smeets NW, Janssen RL, Broekhof KG, Neumann HA, Steijlen PM, Kuijpers DI: Fractionated 5-aminolaevulinic acid-photodynamic therapy vs. surgical excision in the treatment of nodular basal cell carcinoma: results of a randomized controlled trial. Br J Dermatol; 2008 Sep;159(4):864-70
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  • [Title] Fractionated 5-aminolaevulinic acid-photodynamic therapy vs. surgical excision in the treatment of nodular basal cell carcinoma: results of a randomized controlled trial.
  • Surgical excision (SE) is the treatment of first choice for nodular basal cell carcinoma (nBCC).
  • Photodynamic therapy (PDT) has proven to be an effective treatment for superficial basal cell carcinoma.
  • Its long-term efficacy in nBCC has not yet been established.
  • METHODS: A randomized controlled trial in 173 primary nBCCs in 149 patients.
  • Primary nBCCs were randomly assigned either to PDT (n = 85) or to SE (n = 88).
  • RESULTS: In total, 171 primary nBCCs in 149 patients were treated.
  • Therefore, in the treatment of primary nBCC, SE is preferred over PDT following this treatment regimen.
  • [MeSH-major] Aminolevulinic Acid / administration & dosage. Carcinoma, Basal Cell / drug therapy. Carcinoma, Basal Cell / surgery. Photosensitizing Agents / administration & dosage. Skin Neoplasms / drug therapy. Skin Neoplasms / surgery


33. Loncaster J, Swindell R, Slevin F, Sheridan L, Allan D, Allan E: Efficacy of photodynamic therapy as a treatment for Gorlin syndrome-related basal cell carcinomas. Clin Oncol (R Coll Radiol); 2009 Aug;21(6):502-8
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  • [Title] Efficacy of photodynamic therapy as a treatment for Gorlin syndrome-related basal cell carcinomas.
  • AIMS: The management of the multiple basal cell carcinomas (BCCs) that develop throughout life of patients with Gorlin syndrome can be challenging.
  • It is now routinely used to treat superficial sporadic BCCs, using a topically-applied photosensitiser and external light, but its role in the management of Gorlin syndrome-related BCCs has yet to be established.
  • In particular, Gorlin syndrome is often associated thick, nodular lesions which can be resistant to treatment with topical PDT.
  • MATERIALS AND METHODS: We report our outcome data for 33 Gorlin patients (138 lesions) treated with PDT.
  • PDT can be considered as a treatment option for patients with multiple BCCs as a result of Gorlin syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Photochemotherapy / methods. Skin Neoplasms / drug therapy

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  • (PMID = 19398312.001).
  • [ISSN] 1433-2981
  • [Journal-full-title] Clinical oncology (Royal College of Radiologists (Great Britain))
  • [ISO-abbreviation] Clin Oncol (R Coll Radiol)
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Photosensitizing Agents; 97067-70-4 / Dihematoporphyrin Ether
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34. Kansal A, Brueton L, Lahiri A, Lester R: Hypoplastic thumb in Gorlin's syndrome. J Plast Reconstr Aesthet Surg; 2007;60(4):440-2
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  • [Title] Hypoplastic thumb in Gorlin's syndrome.
  • Gorlin's syndrome or naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and medulloblastomas.
  • Gorlin's syndrome is characterized by the development of multiple jaw keratocysts and/or basal carcinomas.
  • Most individuals have skeletal anomalies such as bifid ribs or wedge-shaped vertebrae.
  • Various hand deformities have been reported in patients with Gorlin's syndrome including short metacarpals, cutaneous syndactyly of the second and third fingers, and pre- or post-axial polydactyly, but hypoplasia of the thumb has not been reported previously.
  • These features of Gorlin's syndrome may be helpful diagnostically.
  • The thumbs should be examined carefully in Gorlin's syndrome patients as minor degrees of hypoplasia are easy to miss.
  • [MeSH-major] Basal Cell Nevus Syndrome. Thumb / abnormalities
  • [MeSH-minor] Humans. Infant. Male. Polydactyly / diagnosis. Treatment Outcome

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  • (PMID = 17349603.001).
  • [ISSN] 1748-6815
  • [Journal-full-title] Journal of plastic, reconstructive & aesthetic surgery : JPRAS
  • [ISO-abbreviation] J Plast Reconstr Aesthet Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Netherlands
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35. Lortscher DN, Sengelmann RD, Allen SB: Acrochordon-like basal cell carcinomas in patients with basal cell nevus syndrome. Dermatol Online J; 2007;13(2):21
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  • [Title] Acrochordon-like basal cell carcinomas in patients with basal cell nevus syndrome.
  • Basal cell nevus syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinomas, along with numerous other documented clinical features.
  • We describe two patients with known BCNS who were found to have multiple BCCs that clinically resembled acrochordons.
  • Our findings support the biopsy of acrochordon-like growths in patients with basal cell nevus syndrome to rule out basal cell carcinoma.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Cell Transformation, Neoplastic / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Biopsy, Needle. Child. Diagnosis, Differential. Female. Follow-Up Studies. Humans. Immunohistochemistry. Middle Aged. Risk Assessment

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  • (PMID = 17498440.001).
  • [ISSN] 1087-2108
  • [Journal-full-title] Dermatology online journal
  • [ISO-abbreviation] Dermatol. Online J.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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36. Paoli J, Smedh M, Wennberg AM, Ericson MB: Multiphoton laser scanning microscopy on non-melanoma skin cancer: morphologic features for future non-invasive diagnostics. J Invest Dermatol; 2008 May;128(5):1248-55
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  • Traditional histopathological criteria such as bowenoid dysplasia, multinucleated cells, or hyperkeratosis in squamous cell carcinoma in situ (SCCIS) (five specimens), and peripheral palisading of tumor cells in superficial basal cell carcinoma (SBCC) (six specimens) were clearly discerned.
  • However, characteristic tumor aggregates were found in only one of the three investigated nodular basal cell carcinomas (NBCCs) due to limited imaging depth.
  • In conclusion, MPLSM could potentially be applied for non-invasive diagnostics of SCCIS and SBCC, whereas the ability to characterize NBCC is unclear at this point.
  • [MeSH-major] Carcinoma, Basal Cell / pathology. Carcinoma, Squamous Cell / pathology. Microscopy, Fluorescence, Multiphoton / methods. Skin Neoplasms / pathology
  • [MeSH-minor] Biopsy. Carcinoma in Situ / pathology. Dermis / pathology. Epidermis / pathology. Follow-Up Studies. Humans. Lasers

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  • (PMID = 17989735.001).
  • [ISSN] 1523-1747
  • [Journal-full-title] The Journal of investigative dermatology
  • [ISO-abbreviation] J. Invest. Dermatol.
  • [Language] eng
  • [Publication-type] Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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37. Balasundram S, Kovilpillai FJ, Hopper C: Nevoid basal cell carcinoma syndrome presenting with neck pits and café au lait patches. J Clin Pediatr Dent; 2010;35(1):95-100
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  • [Title] Nevoid basal cell carcinoma syndrome presenting with neck pits and café au lait patches.
  • BACKGROUND: A 10- year-old patient presented with a slow growing jaw swelling.
  • METHODS: Conservative enucleation of the cyst confirmed it to be an odontogenic keratocyst.
  • These cysts were enucleated and were confirmed to be odontogenic keratocysts .
  • The patient has been on regular follow up since then and subsequent scans have shown further occurrence of cysts in the jaws with displacement of the third molars.
  • RESULTS: Clinical examination also revealed macrocephaly, fronto-parietal bossing, pitting on palmar and plantar surfaces, calcification of falx cerebri and splayed ribs, confirming the diagnosis of nevoid basal cell carcinoma syndrome.
  • The family history was negative for features of nevoid basal cell carcinoma syndrome.
  • CONCLUSION: Nevoid basal cell carcinoma syndrome is a condition that can cause significant morbidity if not detected early.
  • Over the years this syndrome has presented with many other non specific phenotype presentation, of which the current finding may be one of This calls for meticulous assessment and examination of patients and a standardized protocol in screening and managing these patients that may facilitate a more beneficial outcome for the patient.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Cafe-au-Lait Spots / diagnosis. Neck / pathology. Skin Abnormalities / diagnosis
  • [MeSH-minor] Child. Diagnosis, Differential. Follow-Up Studies. Humans. Male. Mandibular Diseases / diagnosis. Maxillary Diseases / diagnosis. Odontogenic Cysts / diagnosis. Recurrence. Ribs / abnormalities

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  • (PMID = 21189772.001).
  • [ISSN] 1053-4628
  • [Journal-full-title] The Journal of clinical pediatric dentistry
  • [ISO-abbreviation] J Clin Pediatr Dent
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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38. Caresana G, Giardini R: Dermoscopy-guided surgery in basal cell carcinoma. J Eur Acad Dermatol Venereol; 2010 Dec;24(12):1395-9
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  • [Title] Dermoscopy-guided surgery in basal cell carcinoma.
  • BACKGROUND: In basal cell carcinoma (BCC), excision margins between 3 and 10 mm, according to site, size, borders, previous treatment and histology, can allow for radical excision in at least 95% of cases.
  • Morpheaform BCC, deeply recurrent BCC, BCC in Gorlin-Goltz syndrome, BCC located in sites not accessible through dermoscopy and superficial multifocal BCC were excluded.
  • All cases of excised BCC were submitted to a uniform method of histological examination of the whole specimen with serial parallel sections at 2-mm intervals.
  • [MeSH-major] Carcinoma, Basal Cell / surgery. Dermoscopy. Skin Neoplasms / surgery

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  • [Copyright] © 2010 The Authors. Journal compilation © 2010 European Academy of Dermatology and Venereology.
  • (PMID = 20384678.001).
  • [ISSN] 1468-3083
  • [Journal-full-title] Journal of the European Academy of Dermatology and Venereology : JEADV
  • [ISO-abbreviation] J Eur Acad Dermatol Venereol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
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39. Maoz KB, Dvash S, Brenner S, Brenner S: Amiodarone-induced skin pigmentation and multiple basal-cell carcinomas. Int J Dermatol; 2009 Dec;48(12):1398-400
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  • [Title] Amiodarone-induced skin pigmentation and multiple basal-cell carcinomas.
  • [MeSH-major] Amiodarone / adverse effects. Anti-Arrhythmia Agents / adverse effects. Carcinoma, Basal Cell / chemically induced. Neoplasms, Multiple Primary / chemically induced. Photosensitivity Disorders / chemically induced. Skin Neoplasms / chemically induced

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  • (PMID = 20415682.001).
  • [ISSN] 1365-4632
  • [Journal-full-title] International journal of dermatology
  • [ISO-abbreviation] Int. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anti-Arrhythmia Agents; N3RQ532IUT / Amiodarone
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40. Kalogeropoulou C, Zampakis P, Kazantzi S, Kraniotis P, Mastronikolis NS: Gorlin-Goltz syndrome: incidental finding on routine ct scan following car accident. Cases J; 2009;2:9087
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  • [Title] Gorlin-Goltz syndrome: incidental finding on routine ct scan following car accident.
  • INTRODUCTION: Gorlin-Goltz syndrome is a rare hereditary disease.
  • Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene).
  • Multiple basal cell carcinomas (BCCs), odontogenic keratocysts, skeletal abnormalities, hyperkeratosis of palms and soles, intracranial ectopic calcifications of the falx cerebri and facial dysmorphism are considered the main clinical features.
  • Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by DNA analysis.
  • CASE PRESENTATION: We report the case of a 19 year-old female who was involved in a car accident and found to present imaging findings of Gorlin-Goltz syndrome during a routine whole body computed tomography (CT) scan in order to exclude traumatic injuries.
  • CONCLUSION: Radiologic findings of the syndrome are easily identifiable on CT scans and may prompt to early verification of the disease, which is very important for regular follow-up and better survival rates from the co-existent diseases.

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  • [Cites] N Engl J Med. 1960 May 5;262:908-12 [13851319.001]
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  • (PMID = 20062724.001).
  • [ISSN] 1757-1626
  • [Journal-full-title] Cases journal
  • [ISO-abbreviation] Cases J
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2803884
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41. Pan S, Dong Q, Sun LS, Li TJ: Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis. Clin Cancer Res; 2010 Jan 15;16(2):442-50
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  • [Title] Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.
  • PURPOSE: PTCH1 has been identified as the gene responsible for nevoid basal cell carcinoma syndrome (NBCCS).
  • Keratocystic odontogenic tumors (KCOT) are aggressive jaw lesions that may occur in isolation or in association with NBCCS.
  • The aim of this study was to investigate the genetic and/or epigenetic mechanisms of inactivation of the PTCH1 gene in patients with NBCCS and related sporadic KCOTs.
  • EXPERIMENTAL DESIGN: Loss of heterozygosity was analyzed in 44 patients (15 NBCCS-related and 29 sporadic KCOTs), all of whom were previously analyzed for PTCH1 mutations.
  • Allelic location was established in tumors carrying two coincident mutations.
  • The distribution of two-hit, one-hit, and non-hit cases was significantly different between syndrome and nonsyndrome patients (P < 0.02).
  • CONCLUSIONS: This study indicates that PTCH1 gene alternation may play a significant role in the pathogenesis of NBCCS and the related sporadic tumors.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / genetics. Gingival Neoplasms / genetics. Models, Genetic. Receptors, Cell Surface / genetics
  • [MeSH-minor] Adolescent. Adult. Aged. Alleles. Child. Female. Gene Expression Regulation, Neoplastic. Gene Silencing / physiology. Genetic Predisposition to Disease. Humans. Loss of Heterozygosity. Male. Middle Aged. Mutation / physiology. Odontogenic Tumors / genetics. Odontogenic Tumors / pathology. Young Adult

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  • (PMID = 20068110.001).
  • [ISSN] 1078-0432
  • [Journal-full-title] Clinical cancer research : an official journal of the American Association for Cancer Research
  • [ISO-abbreviation] Clin. Cancer Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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42. Winter HT, Cerclier C, Delorme N, Bizot H, Quemener B, Cathala B: Improved colloidal stability of bacterial cellulose nanocrystal suspensions for the elaboration of spin-coated cellulose-based model surfaces. Biomacromolecules; 2010 Nov 8;11(11):3144-51
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  • Well-dispersed suspensions are a prerequisite when preparing smooth model surfaces based on neutral bacterial cellulose nanocrystals (BCNs).
  • Turbidity measurements, polysaccharide content, and transmission electron microscopy (TEM) analysis revealed that aggregation of BCNs in CMC/BCN and XG/BCN suspensions is dependent on the concentration of CMC and XG in the suspensions.

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  • (PMID = 20936805.001).
  • [ISSN] 1526-4602
  • [Journal-full-title] Biomacromolecules
  • [ISO-abbreviation] Biomacromolecules
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Colloids; 0 / Glucans; 0 / Suspensions; 0 / Xylans; 37294-28-3 / xyloglucan; 9004-32-4 / Carboxymethylcellulose Sodium
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43. Ljubenović M, Ljubenović D, Binić I, Jovanović D, Stanojević M: Gorlin-Goltz syndrome. Acta Dermatovenerol Alp Pannonica Adriat; 2007 Dec;16(4):166-9
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  • [Title] Gorlin-Goltz syndrome.
  • Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon, autosomal dominant inherited disorder, which is characterized by numerous basal cell carcinomas, maxillary keratocysts, and musculoskeletal malformations.
  • Occasionally, it is associated with aggressive basal cell carcinomas and internal malignancies.
  • Early diagnosis and treatment are essential, as well as genetic counseling.
  • A patient with characteristic symptoms of nevoid basal cell carcinomas and a review of the literature are presented.
  • [MeSH-major] Basal Cell Nevus Syndrome. Carcinoma, Basal Cell. Facial Neoplasms. Skin Neoplasms

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  • (PMID = 18204747.001).
  • [ISSN] 1318-4458
  • [Journal-full-title] Acta dermatovenerologica Alpina, Pannonica, et Adriatica
  • [ISO-abbreviation] Acta Dermatovenerol Alp Pannonica Adriat
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Slovenia
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44. Oseroff AR, Shieh S, Frawley NP, Cheney R, Blumenson LE, Pivnick EK, Bellnier DA: Treatment of diffuse basal cell carcinomas and basaloid follicular hamartomas in nevoid basal cell carcinoma syndrome by wide-area 5-aminolevulinic acid photodynamic therapy. Arch Dermatol; 2005 Jan;141(1):60-7
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  • [Title] Treatment of diffuse basal cell carcinomas and basaloid follicular hamartomas in nevoid basal cell carcinoma syndrome by wide-area 5-aminolevulinic acid photodynamic therapy.
  • OBJECTIVE: To report the use of wide-area 5-aminolevulinic acid photodynamic therapy to treat numerous basal cell carcinomas (BCCs) and basaloid follicular hamartomas (BFHs).
  • [MeSH-major] Aminolevulinic Acid / therapeutic use. Basal Cell Nevus Syndrome / drug therapy. Hamartoma Syndrome, Multiple / drug therapy. Photochemotherapy. Photosensitizing Agents / therapeutic use. Skin Neoplasms / drug therapy


45. Zhang XB, Zhang SQ, Li CX, Huang ZM, Luo YW: Acitretin systemic and retinoic acid 0.1% cream supression of basal cell carcinoma. Dermatol Reports; 2010 Jan 18;2(1):e4
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  • [Title] Acitretin systemic and retinoic acid 0.1% cream supression of basal cell carcinoma.
  • Retinoids have been used for years as monotherapy and/or in combination for treatment and suppression of cutaneous malignancies in patients with basal cell nevus syndrome, xeroderma pigmentosum, or cutaneous T-cell lymphoma (CTCL) basal cell carcinoma (BCC).
  • We report 4 cases with BCC confirmed by histopathology who were treated by short-term systemic acitretin combined with retinoic acid 0.1% cream.
  • The 4 cases with BCC showed good response to the treatment without severe adverse effects during treatment and follow-up.
  • The finding suggests that acitretin may be an appropriate treatment option for elderly patients who require less invasive treatment for BCC.

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  • (PMID = 25386240.001).
  • [ISSN] 2036-7392
  • [Journal-full-title] Dermatology reports
  • [ISO-abbreviation] Dermatol Reports
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Italy
  • [Other-IDs] NLM/ PMC4211482
  • [Keywords] NOTNLM ; acitretin / basal cell carcinoma.
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46. Le Brun Keris Y, Jouk PS, Saada-Sebag G, Roux JJ, Mattei B, Bagait L, Paoloni-Giacobino A, Grandchamp B, Soufir N, Lespinasse J: Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome. Eur J Med Genet; 2008 Sep-Oct;51(5):472-8
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  • [Title] Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.
  • We report here a three generations family with nevoid basal cell carcinoma syndrome (NBCCS) in which the diagnosis was made only after a second trimester of pregnancy ultrasonography revealing fetal cranio-cerebral malformations.
  • MC1R gene sequencing identified in two NBCCS patients affected by multiple basal cell carcinomas a functional MC1R variant, D294H, previously shown to be associated with skin cancer risk.
  • This variant was absent in the NBCCS patient that did not develop basal cell carcinomas, suggesting that this variant could have favored the development of skin cancers, in patients carrying the PTCH1 mutation.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics
  • [MeSH-minor] Corpus Callosum / pathology. Craniofacial Abnormalities / diagnosis. Craniofacial Abnormalities / genetics. Exons. Family Health. Female. Gene Deletion. Humans. Mutation. Patched Receptors. Patched-1 Receptor. Pedigree. Pregnancy. Prenatal Diagnosis. Receptor, Melanocortin, Type 1 / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 18539553.001).
  • [ISSN] 1769-7212
  • [Journal-full-title] European journal of medical genetics
  • [ISO-abbreviation] Eur J Med Genet
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Receptor, Melanocortin, Type 1; 0 / Receptors, Cell Surface
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47. Kumar SK, Ram S, Jorgensen MG, Shuler CF, Sedghizadeh PP: Multicentric peripheral ossifying fibroma. J Oral Sci; 2006 Dec;48(4):239-43
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  • Though biopsy samples from multiple sites revealed similar histopathologic features, consistent with POF, the fact that there was a multicentric presentation is a unique phenomenon for this lesion.
  • Multicentric lesions presenting in the oral and maxillofacial region are not typical, but have been observed in conditions associated with known genetic mutations, such as nevoid basal cell carcinoma syndrome (multiple odontogenic keratocysts), multiple endocrine neoplasia type II (multiple neuromas), neurofibromatosis (multiple neurofibromas) and Gardner syndrome (multiple neoplasms).
  • This case is the first one to demonstrate that there may be a multicentric variant of POF that has not been previously recognized, and given the clinical presentation and multifocal nature of disease, the lesions in this patient are likely the result of genetic mutation(s) that predisposes to gingival soft tissue overgrowths containing mineralized product.

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  • (PMID = 17220623.001).
  • [ISSN] 1343-4934
  • [Journal-full-title] Journal of oral science
  • [ISO-abbreviation] J Oral Sci
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
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48. Peacock ZS, Cox D, Schmidt BL: Involvement of PTCH1 mutations in the calcifying epithelial odontogenic tumor. Oral Oncol; 2010 May;46(5):387-92
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Involvement of PTCH1 mutations in the calcifying epithelial odontogenic tumor.
  • The human homologue of the Drosophila segment polarity gene PTCH1, a tumor suppressor gene within the Sonic Hedgehog pathway has been implicated as the mutation responsible for nevoid basal cell carcinoma syndrome (NBCCS) as well as many other sporadic neoplasms.
  • The calcifying epithelial odontogenic tumor (CEOT) is a rare and aggressive tumor of the jaws.
  • A keratocystic odontogenic tumor (KOT) from a 12year-old with NBCCS served as our positive control.
  • Similar to other odontogenic neoplasms gene mutations in PTCH1 are present in the CEOT.
  • [MeSH-major] Genes, Tumor Suppressor. Mutation / genetics. Odontogenic Cyst, Calcifying / genetics. Receptors, Cell Surface / genetics

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  • [Copyright] Copyright (c) 2010 Elsevier Ltd. All rights reserved.
  • (PMID = 20371205.001).
  • [ISSN] 1879-0593
  • [Journal-full-title] Oral oncology
  • [ISO-abbreviation] Oral Oncol.
  • [Language] eng
  • [Grant] United States / NIDCR NIH HHS / DE / DE-06153
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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49. Scully C, Langdon J, Evans J: Marathon of eponyms: 7 Gorlin-Goltz syndrome (Naevoid basal-cell carcinoma syndrome). Oral Dis; 2010 Jan;16(1):117-8
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  • [Title] Marathon of eponyms: 7 Gorlin-Goltz syndrome (Naevoid basal-cell carcinoma syndrome).
  • This document summarizes data about Gorlin-Goltz syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome. Eponyms

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  • (PMID = 20331807.001).
  • [ISSN] 1601-0825
  • [Journal-full-title] Oral diseases
  • [ISO-abbreviation] Oral Dis
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Denmark
  • [Number-of-references] 8
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50. Gu XM, Zhao HS, Sun LS, Li TJ: PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts. J Dent Res; 2006 Sep;85(9):859-63
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  • [Title] PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts.
  • Odontogenic keratocysts are relatively common lesions that may occur in isolation or in association with nevoid basal cell carcinoma syndrome (or Gorlin syndrome).
  • The PTCH gene has been reported to be associated with Gorlin syndrome.
  • We investigated 10 cases of non-syndromic keratocysts and two other cases associated with Gorlin syndrome, looking for PTCH mutations.
  • Of the 5 mutations identified, 2 were germ-line mutations (2619C>A; 1338_1339insGCG) in 2 cysts associated with Gorlin syndrome, and 3 were somatic mutations (3124_3129dupGTGTGC; 1361_1364delGTCT; 3913G>T) in 3 non-syndromic cysts.
  • This report describes PTCH mutations in both non-syndromic and Gorlin-syndrome-related odontogenic keratocysts in Chinese patients, and suggests that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic keratocysts.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Odontogenic Cysts / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 16931872.001).
  • [ISSN] 0022-0345
  • [Journal-full-title] Journal of dental research
  • [ISO-abbreviation] J. Dent. Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Receptors, Cell Surface; 68238-35-7 / Keratins
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51. Zurada J, Ratner D: Diagnosis and treatment of basal cell nevus syndrome. Skinmed; 2005 Mar-Apr;4(2):107-10
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Diagnosis and treatment of basal cell nevus syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / therapy. Skin Neoplasms / diagnosis. Skin Neoplasms / therapy

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  • (PMID = 15788894.001).
  • [ISSN] 1540-9740
  • [Journal-full-title] Skinmed
  • [ISO-abbreviation] Skinmed
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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52. Bouthors J, Vantyghem MC, Manouvrier-Hanu S, Soudan B, Proust E, Happle R, Piette F: Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. Br J Dermatol; 2006 Jul;155(1):225-6
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  • [Title] Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas.
  • [MeSH-major] Carcinoma, Basal Cell / complications. Hypophosphatemia, Familial / complications. Neurocutaneous Syndromes / complications. Pheochromocytoma / complications. Skin Neoplasms / complications


53. Barnes EA, Heidtman KJ, Donoghue DJ: Constitutive activation of the shh-ptc1 pathway by a patched1 mutation identified in BCC. Oncogene; 2005 Jan 27;24(5):902-15
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  • [Title] Constitutive activation of the shh-ptc1 pathway by a patched1 mutation identified in BCC.
  • Mutations in the transmembrane receptor patched1 (ptc1) are responsible for the majority of basal cell carcinoma (BCC) cases.
  • Many of these mutations, including ptc1-Q688X, result in premature truncation of the ptc1 protein. ptc1-Q688X has been identified in patients with both BCC and nevoid basal cell carcinoma syndrome, an inheritable disorder causing a predisposition to cancer susceptibility.
  • Cells expressing ptc1-Q688X demonstrate an increase in cell cycle progression and induce cell transformation.
  • [MeSH-major] Carcinoma, Basal Cell / genetics. Membrane Proteins / genetics. Mutation. Trans-Activators / genetics
  • [MeSH-minor] 3T3 Cells. Animals. Cell Division / genetics. Cell Line. Hedgehog Proteins. Humans. Hydroxyurea / pharmacology. Kidney. Mice. Mitosis / drug effects. Mutagenesis, Site-Directed. Receptors, Cell Surface

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  • (PMID = 15592520.001).
  • [ISSN] 0950-9232
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] eng
  • [Grant] United States / NIGMS NIH HHS / GM / GM65490; United States / NCI NIH HHS / CA / P30CA23100-18; United States / NCI NIH HHS / CA / T32-CA09523
  • [Publication-type] Journal Article; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / Membrane Proteins; 0 / Receptors, Cell Surface; 0 / SHH protein, human; 0 / Trans-Activators; 0 / patched receptors; X6Q56QN5QC / Hydroxyurea
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54. Pitak-Arnnop P, Chaine A, Oprean N, Dhanuthai K, Bertrand JC, Bertolus C: Management of odontogenic keratocysts of the jaws: a ten-year experience with 120 consecutive lesions. J Craniomaxillofac Surg; 2010 Jul;38(5):358-64
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  • [Title] Management of odontogenic keratocysts of the jaws: a ten-year experience with 120 consecutive lesions.
  • BACKGROUND: The treatment of odontogenic keratocyst (OKC) of the jaws remains controversial.
  • Basal cell naevus syndrome (Gorlin's syndrome) patients were excluded.
  • Recurrence data was analysed in relation to radiographic features, type of microscopic diagnosis, presence of cortical perforation, and site of involvement.
  • RESULTS: One hundred and twenty cysts in 109 patients were examined.
  • Postoperatively, infection occurred in 4 patients, and there was no jaw fracture.
  • Recurrence was found in 28 cysts (26%), of which 7 cysts (6%) had multiple recurrences.
  • [MeSH-major] Jaw Diseases / surgery. Mandible / surgery. Maxilla / surgery. Odontogenic Cysts / surgery

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  • [Copyright] Copyright 2009 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.
  • (PMID = 19897381.001).
  • [ISSN] 1878-4119
  • [Journal-full-title] Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
  • [ISO-abbreviation] J Craniomaxillofac Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Scotland
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55. Barker L, Lo S, Sudderick R: Gorlin's syndrome presenting with myolipoma of tongue base. J Laryngol Otol; 2008 Oct;122(10):1130-2
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  • [Title] Gorlin's syndrome presenting with myolipoma of tongue base.
  • OBJECTIVE: We report the first case of tongue base myolipoma associated with Gorlin's syndrome.
  • RESULTS: A 39-year-old man with known Gorlin's syndrome presented with progressive dysphagia.
  • Subsequent magnetic resonance imaging scan and biopsy confirmed the rare diagnosis of myolipoma arising from the tongue base.
  • This case appears to represent a new variant in the broad spectrum of features of Gorlin's syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Lipoma / pathology. Tongue Neoplasms / pathology

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  • (PMID = 17908355.001).
  • [ISSN] 1748-5460
  • [Journal-full-title] The Journal of laryngology and otology
  • [ISO-abbreviation] J Laryngol Otol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 23
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56. Mills O, Thomas LB: Basaloid follicular hamartoma. Arch Pathol Lab Med; 2010 Aug;134(8):1215-9
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  • Basaloid follicular hamartoma is a benign lesion of important consideration because it can be mistaken both clinically and histologically for basal cell carcinoma.
  • The formation of basaloid follicular hamartoma has been linked to a mutation in the patched gene, which is part of the same pathway implicated in nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Hair Diseases / diagnosis. Hair Follicle / pathology. Hamartoma / diagnosis
  • [MeSH-minor] Carcinoma, Basal Cell / diagnosis. Diagnosis, Differential. Humans. Mutation. Receptors, Cell Surface / genetics. Skin Neoplasms / diagnosis


57. Debeer P, Devriendt K: Early recognition of basal cell naevus syndrome. Eur J Pediatr; 2005 Mar;164(3):123-5
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  • [Title] Early recognition of basal cell naevus syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Developmental Disabilities / genetics. Trans-Activators / genetics
  • [MeSH-minor] Child. Hedgehog Proteins. Humans. Mutation. Patched Receptors. Receptors, Cell Surface / genetics

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  • [CommentOn] Eur J Pediatr. 2005 Mar;164(3):126-30 [15717176.001]
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  • (PMID = 15717175.001).
  • [ISSN] 0340-6199
  • [Journal-full-title] European journal of pediatrics
  • [ISO-abbreviation] Eur. J. Pediatr.
  • [Language] eng
  • [Publication-type] Editorial; Comment
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / Patched Receptors; 0 / Receptors, Cell Surface; 0 / Trans-Activators
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58. Kokcam I, Saki CE: A case of cutaneous myiasis caused by Wohlfahrtia magnifica. J Dermatol; 2005 Jun;32(6):459-63
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  • The disease is infrequent in Turkey; it is observed particularly in people with some predisposing factors.
  • A 46-year-old male farmer with nevoid basal cell carcinoma syndrome (NBCCS) presented with the complaint of a blood-tinged discharge and pain in the left frontal-temporal region for three days.
  • Physical examination revealed live maggots in the ulcerous wound resulting from basal cell carcinoma.
  • [MeSH-major] Carcinoma, Basal Cell / pathology. Diptera / parasitology. Myiasis / diagnosis. Skin Diseases, Parasitic / diagnosis. Skin Neoplasms / pathology

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  • (PMID = 16043920.001).
  • [ISSN] 0385-2407
  • [Journal-full-title] The Journal of dermatology
  • [ISO-abbreviation] J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Japan
  • [Number-of-references] 22
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59. Kluger N, Marco-Baertich I, Guillot B: Late onset of cardiac tumour in naevoid Basal cell carcinoma (Gorlin) syndrome. Acta Derm Venereol; 2007;87(3):272-3
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  • [Title] Late onset of cardiac tumour in naevoid Basal cell carcinoma (Gorlin) syndrome.
  • [MeSH-minor] Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / genetics. Female. Frameshift Mutation. Humans. Magnetic Resonance Imaging, Cine. Middle Aged. Receptors, Cell Surface / genetics

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  • (PMID = 17533500.001).
  • [ISSN] 0001-5555
  • [Journal-full-title] Acta dermato-venereologica
  • [ISO-abbreviation] Acta Derm. Venereol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Sweden
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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60. Mitropoulos P, Norman R: Nevoid basal cell carcinoma syndrome (Gorlin syndrome): updated review of minimally invasive treatments. Cutis; 2008 Jan;81(1):53-60
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  • [Title] Nevoid basal cell carcinoma syndrome (Gorlin syndrome): updated review of minimally invasive treatments.
  • An updated review of management of nevoid basal cell carcinoma syndrome (NBCCS) is presented.
  • An ideal treatment of NBCCS does not exist, and surgical intervention has been the most commonly used treatment, as it provides excellent cure rates.
  • However, patients with NBCCS typically present with a large number of basal cell carcinomas (BCCs) with repeated occurrence throughout life.
  • [MeSH-major] Basal Cell Nevus Syndrome / therapy. Carcinoma, Basal Cell / therapy. Skin Neoplasms / therapy

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  • (PMID = 18306849.001).
  • [ISSN] 0011-4162
  • [Journal-full-title] Cutis
  • [ISO-abbreviation] Cutis
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Aminoquinolines; 0 / Antineoplastic Agents; 0 / Immunologic Factors; 0 / Retinoids; 9008-11-1 / Interferons; 99011-02-6 / imiquimod; U3P01618RT / Fluorouracil
  • [Number-of-references] 51
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61. Schütt F, Staff C, Stein T, Hartschuh W, Dithmar S: [Photodynamic therapy of lid basal cell carcinomas in a 13-year-old patient with Gorlin Goltz syndrome]. Klin Monbl Augenheilkd; 2007 Aug;224(8):670-3
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  • [Title] [Photodynamic therapy of lid basal cell carcinomas in a 13-year-old patient with Gorlin Goltz syndrome].
  • [Transliterated title] Photodynamische Therapie von Lidbasaliomen bei 13-jährigem Patienten mit Gorlin-Goltz-Syndrom.
  • BACKGROUND: Gorlin Goltz syndrome is a rare, autosomal dominant inherited disease that is characterised by multiple basal cell carcinomas (BCC) including the periorbital region and eye lids.
  • PATIENT: A 13-year-old boy with Gorlin Goltz syndrome presented with multiple confluent BCC on both eye lids and the skin of neck and trunk.
  • Multiple bilateral periorbital confluent and surgically not removable BCC were treated by topical PDT.
  • RESULTS: Numerous superficial BCC were successfully treated by photodynamic therapy with remarkable cosmetic results.
  • CONCLUSION: In cases of numerous confluent and surgically not removable BCC, PDT represents an effective therapy.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / drug therapy. Carcinoma, Basal Cell / pathology. Eyelid Neoplasms / drug therapy. Eyelid Neoplasms / pathology. Photochemotherapy / methods

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  • (PMID = 17717785.001).
  • [ISSN] 0023-2165
  • [Journal-full-title] Klinische Monatsblätter für Augenheilkunde
  • [ISO-abbreviation] Klin Monbl Augenheilkd
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
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62. Smucker PS, Smith JL: Multifocal desmoplastic medulloblastoma in an african-american child with nevoid basal cell carcinoma (gorlin) syndrome. Case report. J Neurosurg; 2006 Oct;105(4 Suppl):315-20
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  • [Title] Multifocal desmoplastic medulloblastoma in an african-american child with nevoid basal cell carcinoma (gorlin) syndrome. Case report.
  • The authors present the case of a 2.5-year-old African-American boy with desmoplastic medulloblastoma (MB) and nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, an autosomal dominant disorder resulting from mutations in the patched (PTCH) gene that predisposes to neoplasias (including basal cell carcinomas [BCCs] and MB) and to widespread congenital malformations.
  • The diagnosis of NBCCS was suspected based on the clinical examination, patient and family medical histories, and histopathological characteristics of the tumor.
  • The diagnosis of NBCCS was confirmed by DNA testing, which revealed a novel mutation in the PTCH gene.
  • This is the first report of an African-American child with MB diagnosed with NBCCS prior to radiotherapy.
  • Although only a small number of patients with MB have NBCCS, the diagnosis must be considered because radiotherapy in such patients can lead to the formation of BCCs and other intracranial neoplasms within the irradiated field.
  • This case emphasizes the importance of obtaining thorough family and patient medical histories and of carefully examining the patient and close relatives for signs of NBCCS to avoid the potentially devastating consequences of missing this diagnosis.
  • [MeSH-major] African Americans. Basal Cell Nevus Syndrome / diagnosis. Brain Neoplasms / diagnosis. Cerebellar Neoplasms / diagnosis. Cerebral Ventricle Neoplasms / diagnosis. Medulloblastoma / diagnosis. Neoplasms, Multiple Primary / diagnosis
  • [MeSH-minor] Child, Preschool. Cranial Fossa, Posterior. Humans. Magnetic Resonance Imaging. Male. Mutation. Receptors, Cell Surface / genetics


63. Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F: Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A; 2010 Feb;152A(2):327-32
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  • [Title] Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service.
  • Autosomal dominantly inherited tumor-prone syndromes are a substantial health problem and are amenable to epidemiologic studies by combining cancer surveillance registries with a genetic register (GR)-based approach.
  • GRs for five tumor-prone syndromes were established in the Manchester region of North West England in 1989 and 1990.
  • Mapping birth dates of affected individuals from families onto regional birth rates has allowed an estimate of birth incidence, disease prevalence, and de novo mutation rates.
  • Disease prevalence in order of frequency were for neurofibromatosis type 1 (NF1): 1 in 4,560; familial adenomatous polyposis (FAP): 1 in 18,976; nevoid basal cell carcinoma [Gorlin syndrome (GS)]: 1 in 30,827; neurofibromatosis type 2 (NF2) 1 in 56,161; and von Hippel Lindau (VHL) 1 in 91,111.
  • The proportions due to de novo mutation were: 42% (NF1); 16% (FAP); 26% (GS); 56% (NF2); and 21% (VHL).
  • Estimates for NF1, NF2, FAP, and VHL are in line with previous estimates, and we provide the first estimates of birth incidence and de novo mutation rate for GS.
  • [MeSH-minor] Adenomatous Polyposis Coli / genetics. Basal Cell Nevus Syndrome / genetics. DNA Mutational Analysis. Great Britain. Humans. Incidence. Mutation. Neurofibromatosis 2 / genetics. Prevalence. Syndrome. Von Hippel-Lindau Tumor Suppressor Protein / genetics. von Hippel-Lindau Disease / genetics

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  • [Copyright] Copyright 2010 Wiley-Liss, Inc.
  • (PMID = 20082463.001).
  • [ISSN] 1552-4833
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] EC 6.3.2.19 / Von Hippel-Lindau Tumor Suppressor Protein
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64. Scott A, Strouthidis NG, Robson AG, Forsyth J, Maher ER, Schlottmann PG, Michaelides M: Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation. Am J Ophthalmol; 2007 Feb;143(2):346-8
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  • [Title] Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.
  • PURPOSE: To present the detailed ocular phenotype of a subject with Gorlin syndrome (GS) (basal cell nevus syndrome; OMIM 109400) and to undertake mutation screening of the gene Patched (PTCH).
  • CONCLUSIONS: We present a case of bilateral ERM in GS with a molecular genetic diagnosis.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Codon, Nonsense. Epiretinal Membrane / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 17258529.001).
  • [ISSN] 0002-9394
  • [Journal-full-title] American journal of ophthalmology
  • [ISO-abbreviation] Am. J. Ophthalmol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / Receptors, Cell Surface; 0 / patched receptors
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65. Malhotra AK, Gupta S, Khaitan BK, Verma KK: Multiple basal cell carcinomas in xeroderma pigmentosum treated with imiquimod 5% cream. Pediatr Dermatol; 2008 Jul-Aug;25(4):488-91
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  • [Title] Multiple basal cell carcinomas in xeroderma pigmentosum treated with imiquimod 5% cream.
  • We report successful treatment of multiple basal cell carcinomas with imiquimod 5% cream in a 16-year-old boy with xeroderma pigmentosum and review the possibility of prophylactic role of imiquimod in the disease.
  • Imiquimod cream was applied uniformly over all the basal cell carcinoma lesions and background pigmented skin, once at bedtime on every alternate day for 12 weeks.
  • Besides the basal cell carcinomas, the background hyperpigmentation and keratotic papules also cleared, and the skin texture improved.
  • [MeSH-major] Aminoquinolines / administration & dosage. Antineoplastic Agents / administration & dosage. Carcinoma, Basal Cell / drug therapy. Skin Neoplasms / drug therapy. Xeroderma Pigmentosum / drug therapy

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  • (PMID = 18789101.001).
  • [ISSN] 1525-1470
  • [Journal-full-title] Pediatric dermatology
  • [ISO-abbreviation] Pediatr Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Aminoquinolines; 0 / Antineoplastic Agents; 0 / Ointments; 99011-02-6 / imiquimod
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66. Davari P, Hebert JL, Albertson DG, Huey B, Roy R, Mancianti ML, Horvai AE, McDaniel LD, Schultz RA, Epstein EH Jr: Loss of Blm enhances basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Ptch1+/- mice. Carcinogenesis; 2010 Jun;31(6):968-73
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  • [Title] Loss of Blm enhances basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Ptch1+/- mice.
  • Basal cell carcinomas (BCCs) have relative genomic stability and relatively benign clinical behavior but whether these two are related causally is unknown.
  • The mutant Blm alleles also markedly enhanced the formation of rhabdomyosarcomas (RMSs), another cancer to which Ptch1(+/)(-) mice and PTCH1(+/)(-) (basal cell nevus syndrome) patients are susceptible.
  • Despite the quantitative differences, there was no dramatic qualititative difference in the BCC or RMS tumors associated with the mutant Blm genotype.

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  • (PMID = 19995795.001).
  • [ISSN] 1460-2180
  • [Journal-full-title] Carcinogenesis
  • [ISO-abbreviation] Carcinogenesis
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA81888; United States / NCI NIH HHS / CA / CA84118
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] England
  • [Chemical-registry-number] EC 3.6.1.- / Bloom syndrome protein; EC 3.6.4.12 / RecQ Helicases
  • [Other-IDs] NLM/ PMC2878356
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67. Kimura H, Stephen D, Joyner A, Curran T: Gli1 is important for medulloblastoma formation in Ptc1+/- mice. Oncogene; 2005 Jun 9;24(25):4026-36
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  • Germline mutations in the human homolog of the patched1 (PTCH1) are associated with basal cell nevus carcinoma syndrome (BCNS or Gorlin syndrome), which is characterized by developmental anomalies, radiation hypersensitivity and a predisposition to medulloblastomas and skin tumors.
  • In cultured fibroblasts, Gli1 was more potent than Gli2 at inducing cell transformation.
  • [MeSH-minor] Animals. Genes, Reporter. Kruppel-Like Transcription Factors. Luciferases / genetics. Luciferases / metabolism. Mice. Receptors, Cell Surface. Transcription, Genetic. Tumor Cells, Cultured. Zinc Fingers

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  • (PMID = 15806168.001).
  • [ISSN] 0950-9232
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA096832
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Gli protein, mouse; 0 / Gli2 protein; 0 / Intracellular Signaling Peptides and Proteins; 0 / Kruppel-Like Transcription Factors; 0 / Membrane Proteins; 0 / Receptors, Cell Surface; 0 / Transcription Factors; 0 / patched receptors; EC 1.13.12.- / Luciferases
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68. Derwińska K, Smyk M, Cooper ML, Bader P, Cheung SW, Stankiewicz P: PTCH1 duplication in a family with microcephaly and mild developmental delay. Eur J Hum Genet; 2009 Feb;17(2):267-71
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  • The development of array CGH has enabled the detection of chromosomal microduplications with nearly the same sensitivity as deletions, leading to the discovery of previously unrecognized syndromes.
  • Deletions or loss-of-function mutations of PTCH1 result in basal cell nevus syndrome (Gorlin syndrome), whereas gain-of-function mutations were proposed to lead to holoprosencephaly 7.
  • [MeSH-major] Developmental Disabilities / genetics. Microcephaly / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 18830227.001).
  • [ISSN] 1476-5438
  • [Journal-full-title] European journal of human genetics : EJHG
  • [ISO-abbreviation] Eur. J. Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Other-IDs] NLM/ PMC2986050
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69. Pribila JT, Ronan SM, Trobe JD: Multiple intracranial meningiomas causing papilledema and visual loss in a patient with nevoid Basal cell carcinoma syndrome. J Neuroophthalmol; 2008 Mar;28(1):41-6
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  • [Title] Multiple intracranial meningiomas causing papilledema and visual loss in a patient with nevoid Basal cell carcinoma syndrome.
  • A 27-year-old man with nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) who had undergone craniospinal irradiation for a childhood brain stem medulloblastoma complained of progressive binocular visual loss.
  • Brain MRI demonstrated mass effect from multiple large meningiomas.
  • This is the sixth reported patient with NBCCS, medulloblastoma, and craniospinal radiation who has developed intracranial meningioma, further documenting the fact that such patients have a relatively high likelihood of developing meningiomas, especially multiple meningiomas.
  • Because patients with NBCCS are often mentally impaired and because papilledema can progress silently before causing irreversible visual loss, periodic ophthalmologic examination is advisable after craniospinal radiation.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Brain Neoplasms / complications. Meningioma / complications. Neoplasms, Multiple Primary / complications. Papilledema / etiology. Radiotherapy / adverse effects. Vision, Low / etiology
  • [MeSH-minor] Adult. Disease Progression. Humans. Intracranial Hypertension / etiology. Intracranial Hypertension / physiopathology. Magnetic Resonance Imaging. Male. Medulloblastoma / radiotherapy. Meninges / pathology. Neurosurgical Procedures. Optic Disk / pathology. Optic Disk / physiopathology. Retina / pathology. Retina / physiopathology. Treatment Outcome


70. Sasaki R, Miyashita T, Matsumoto N, Fujii K, Saito K, Ando T: Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2010 Aug;110(2):e41-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by developmental abnormalities and a predisposition to cancers.
  • Although multiple jaw tumors, such as keratocystic odontogenic tumors (KCOTs), are one of the most frequent complications in NBCCS, the molecular mechanism for how KCOTs develop in NBCCS is poorly understood.
  • A 15-year-old girl with 2 jaw tumors was diagnosed as NBCCS according to the clinical criteria.
  • The pathologic findings indicated that the 2 tumors were consistent with KCOTs.
  • A PTCH1 mutation, c.1472delT, was detected in her peripheral blood as well as in the 2 tumors.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / genetics. Mandibular Neoplasms / etiology. Maxillary Neoplasms / etiology. Odontogenic Tumors / etiology. Receptors, Cell Surface / genetics

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  • [Copyright] Copyright 2010 Mosby, Inc. All rights reserved.
  • (PMID = 20659694.001).
  • [ISSN] 1528-395X
  • [Journal-full-title] Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
  • [ISO-abbreviation] Oral Surg Oral Med Oral Pathol Oral Radiol Endod
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Ki-67 Antigen; 0 / Receptors, Cell Surface; 0 / patched receptors; 136601-57-5 / Cyclin D1; 68238-35-7 / Keratins
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71. Pruvost-Balland C, Gorry P, Boutet N, Magnaldo T, Mamelle G, Margulis A, Kolb F, Duvillard P, Spatz A, Brugières L, Chompret A, Avril MF: [Clinical and genetic study in 22 patients with basal cell nevus syndrome]. Ann Dermatol Venereol; 2006 Feb;133(2):117-23
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Clinical and genetic study in 22 patients with basal cell nevus syndrome].
  • [Transliterated title] Etude clinique et recherche de mutations germinales du gène PTCH 1 dans le syndrome des hamartomes basocellulaires.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder characterized by developmental abnormalities and cancer predisposition.
  • The PTCH 1 gene, the human homolog of the Drosophila segment polarity gene patched, has been shown to be involved in the development of nevoid basal cell carcinoma syndrome.
  • The aim of the present study was to report on clinical and genetic characteristics in patients followed for nevoid basal cell carcinoma syndrome and to compare them to the data in the literature.
  • PATIENTS AND METHODS: Screening for PTCH 1 mutations was done in 22 patients followed between 1981 and 2003 for clinical suspicion of nevoid basal cell carcinoma syndrome.
  • RESULTS: All patients had developed basal cell carcinomas: 45% palmar and plantar pitting, 62% jaw cysts and 66% calcification of falx cerebri.
  • Medulloblastomas and meningiomas were the most common associated tumors.
  • DISCUSSION: Genetic analysis allows molecular confirmation of diagnosis in about half of all patients.
  • Early diagnosis is essential for detection of clinical and radiological manifestations in young patients and for provision of advice concerning protection of the skin from the sunlight.
  • [MeSH-major] Basal Cell Nevus Syndrome
  • [MeSH-minor] Adolescent. Adult. Age Factors. Aged. Aged, 80 and over. Chromosomes, Human, Pair 9 / genetics. Female. Germ-Line Mutation. Humans. Male. Middle Aged. Receptors, Cell Surface / genetics. Retrospective Studies. Sex Factors

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  • [CommentIn] Ann Dermatol Venereol. 2007 Jan;134(1):75 [17384552.001]
  • (PMID = 16508594.001).
  • [ISSN] 0151-9638
  • [Journal-full-title] Annales de dermatologie et de vénéréologie
  • [ISO-abbreviation] Ann Dermatol Venereol
  • [Language] fre
  • [Publication-type] Comparative Study; English Abstract; Journal Article; Review
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Number-of-references] 22
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72. Ragge NK, Salt A, Collin JR, Michalski A, Farndon PA: Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation. Br J Ophthalmol; 2005 Aug;89(8):988-91
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  • [Title] Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.
  • RESULTS: A mutation in exon 10 of the PTCH gene was identified, confirming a diagnosis of Gorlin syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Cerebellar Neoplasms / genetics. Medulloblastoma / genetics. Microphthalmos / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 16024850.001).
  • [ISSN] 0007-1161
  • [Journal-full-title] The British journal of ophthalmology
  • [ISO-abbreviation] Br J Ophthalmol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Other-IDs] NLM/ PMC1772759
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73. Koutlas IG, Koch CA, Vickers RA, Brouwers FM, Vortmeyer AO: An unusual ostensible example of intraoral basal cell carcinoma. J Cutan Pathol; 2009 Apr;36(4):464-70
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] An unusual ostensible example of intraoral basal cell carcinoma.
  • An example of oral basal cell carcinoma is presented originating on the posterior mandibular mucosa and gingiva of a 67-year-old female.
  • Tissue samples of the tumor were evaluated with monoclonal antibody Ber-EP4 and were compared with examples of oral mucosa, skin, oral and cutaneous squamous cell carcinoma, peripheral ameloblastoma, ameloblastoma and cutaneous basal cell carcinoma (BCC).
  • Only neoplastic basal cells showed positive immunohistochemical staining.
  • PTCH gene mutations are reported in patients with Gorlin syndrome and sporadic cutaneous BCCs.
  • These observations support the inclusion of BCC in the differential diagnosis of appropriate oral mucosal neoplasms.
  • [MeSH-major] Carcinoma, Basal Cell / pathology. Mouth Neoplasms / pathology. Neoplasm Recurrence, Local / pathology
  • [MeSH-minor] Aged. Biomarkers, Tumor / metabolism. Female. Humans. Immunohistochemistry. Loss of Heterozygosity. Receptors, Cell Surface / genetics

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  • (PMID = 19278434.001).
  • [ISSN] 1600-0560
  • [Journal-full-title] Journal of cutaneous pathology
  • [ISO-abbreviation] J. Cutan. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Receptors, Cell Surface; 0 / human epithelial antigen-125; 0 / patched receptors
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74. Gyurova MS, Stancheva MZ, Arnaudova MN, Yankova RK: Intralesional bleomycin as alternative therapy in the treatment of multiple basal cell carcinomas. Dermatol Online J; 2006;12(3):25
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  • [Title] Intralesional bleomycin as alternative therapy in the treatment of multiple basal cell carcinomas.
  • An 82-year-old female with with multiple basal cell carcinomas is presented.
  • We injected intralesional bleomycin to eight new histologically proven basal cell cancers.
  • [MeSH-major] Antimetabolites, Antineoplastic / administration & dosage. Bleomycin / administration & dosage. Carcinoma, Basal Cell / drug therapy. Neoplasms, Second Primary / drug therapy. Skin Neoplasms / drug therapy

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  • (PMID = 16638439.001).
  • [ISSN] 1087-2108
  • [Journal-full-title] Dermatology online journal
  • [ISO-abbreviation] Dermatol. Online J.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antimetabolites, Antineoplastic; 11056-06-7 / Bleomycin
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75. Shand JM, Heggie AA: Cysts of the jaws and advances in the diagnosis and management of nevoid Basal cell carcinoma syndrome. Oral Maxillofac Surg Clin North Am; 2005 Nov;17(4):403-14
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cysts of the jaws and advances in the diagnosis and management of nevoid Basal cell carcinoma syndrome.
  • Cysts of the jaws are a relatively commonly encountered pathologic condition, and a full spectrum of these lesions may present in pediatric patients.
  • Most cystic lesions are of odontogenic origin, as seen in adult patients, and a range of surgical approaches are available for their management.

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  • (PMID = 18088795.001).
  • [ISSN] 1042-3699
  • [Journal-full-title] Oral and maxillofacial surgery clinics of North America
  • [ISO-abbreviation] Oral Maxillofac Surg Clin North Am
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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76. de Meij TG, Baars MJ, Gille JJ, Hack WW, Haasnoot K, van Hagen JM: [From gene to disease: basal cell naevus syndrome]. Ned Tijdschr Geneeskd; 2005 Jan 8;149(2):78-81
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [From gene to disease: basal cell naevus syndrome].
  • Nevoid basal cell carcinoma syndrome (NBCCS, basal cell naevus syndrome, Gorlin syndrome) is an autosomal dominant disorder, caused by mutations in the PTCH gene mapped to chromosome 9q22.3.
  • It is characterised by multiple basal cell carcinomas, keratocysts of the jaws, palmar and plantar pits, cerebral ectopic calcification and several skeletal anomalies.
  • Occasionally, patients with NBCCS develop other neoplasms, particularly medulloblastomas and ovarian fibromas, indicating that the PTCH gene is a tumor-suppressor gene.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Chromosomes, Human, Pair 9. Genes, Tumor Suppressor. Membrane Proteins / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 15688838.001).
  • [ISSN] 0028-2162
  • [Journal-full-title] Nederlands tijdschrift voor geneeskunde
  • [ISO-abbreviation] Ned Tijdschr Geneeskd
  • [Language] dut
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Membrane Proteins; 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Number-of-references] 8
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77. Katase N, Nagatsuka H, Tsujigiwa H, Gunduz M, Tamamura R, Pwint HP, Rivera RS, Nakajima M, Naomoto Y, Nagai N: Analysis of the neoplastic nature and biological potential of sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumor. J Oral Pathol Med; 2007 Oct;36(9):550-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Analysis of the neoplastic nature and biological potential of sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumor.
  • BACKGROUND: Keratocystic odontogenic tumor (KCOT), also known as odontogenic keratocyst, is a benign cystic neoplasm, which may be associated with nevoid basal cell carcinoma syndrome (NBCCS) and if it does, will occur as multiple cystic lesions.
  • Heparanase is an endo-d-glucuronidase enzyme that specifically cleaves heparan sulfate (HS) and the increase of its level in tumors promotes invasion, angiogenesis, and metastasis.
  • METHODS: To investigate the neoplastic character of KCOT, we studied the localization patterns of heparanase in KCOT, focusing on the differences between sporadic and NBCCS-associated KCOTs, by immunohistochemistry and in situ hybridization.
  • To compare the expression pattern of these cysts with non-tumorous odontogenic developmental cyst, dentigerous cyst was included.
  • RESULTS: All the odontogenic cysts showed positive immunoreaction for heparanase protein in various intensities.
  • Interestingly, intense gene and protein expressions were observed in KCOT associated with NBCCS compared with sporadic ones and dentigerous cyst.
  • CONCLUSIONS: The results implied that heparanase expression may be correlated with the neoplastic properties of KCOT, particularly in NBCCS-associated cases.
  • [MeSH-major] Basal Cell Nevus Syndrome / enzymology. Glucuronidase / biosynthesis. Odontogenic Cysts / enzymology. Odontogenic Tumors / enzymology

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  • (PMID = 17850439.001).
  • [ISSN] 0904-2512
  • [Journal-full-title] Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
  • [ISO-abbreviation] J. Oral Pathol. Med.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Heparan Sulfate Proteoglycans; EC 3.2.1.- / heparanase; EC 3.2.1.31 / Glucuronidase
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78. Acocella A, Sacco R, Bertolai R, Sacco N: Genetic and clinicopathologic aspects of Gorlin-Goltz syndrome (NBCCS): presentation of two case reports and literature review. Minerva Stomatol; 2009 Jan-Feb;58(1-2):43-53
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Genetic and clinicopathologic aspects of Gorlin-Goltz syndrome (NBCCS): presentation of two case reports and literature review.
  • Gorlin-Goltz Syndrome (Nevoid Basal Cell Carcinoma Syndrome) is a well-known disorder with distinctive symptoms, which are studied since the 1960s.
  • This is an hereditary disease, with autosomal dominant trait, characterised by high penetration and variable expressivity.
  • In particular, the PTCH gene is important both for embryonic structuring and cellular cycle, therefore, its mutation represents a key event for the development of the disease.
  • From a clinical point of view, the syndrome requires a multidisciplinary approach meaning that a successful treatment needs the simultaneous co-operation of different specialists.
  • Thus, a correct treatment entails the following steps: an early detection of the disease, an extended family history and a careful evaluation of symptoms.
  • The aim of this article was to highlight the main pathologic and genetic features of Gorlin-Goltz Syndrome, its outbreak frequency and the main characteristics of the population clusters it is more likely to hit.
  • Furthermore, due to the predisposition of the disease to relapse, a constant clinical follow-up combined with a correct treatment are important.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics
  • [MeSH-minor] Adult. Aged. Calcinosis / genetics. Calcinosis / radiography. Carcinoma, Basal Cell / genetics. Carcinoma, Basal Cell / surgery. Chromosomes, Human, Pair 9 / genetics. Dura Mater / pathology. Dura Mater / radiography. Facial Neoplasms / genetics. Facial Neoplasms / surgery. Female. Genes, Dominant. Hedgehog Proteins / genetics. Hedgehog Proteins / physiology. Humans. Jaw Diseases / genetics. Jaw Diseases / surgery. Loss of Heterozygosity. Male. Odontogenic Cysts / genetics. Odontogenic Cysts / surgery. Receptors, Cell Surface / genetics. Receptors, Cell Surface / physiology. Signal Transduction. Tooth Avulsion / genetics. Tooth Avulsion / surgery

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  • (PMID = 19234436.001).
  • [ISSN] 0026-4970
  • [Journal-full-title] Minerva stomatologica
  • [ISO-abbreviation] Minerva Stomatol
  • [Language] eng; ita
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Italy
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / Receptors, Cell Surface; 0 / SHH protein, human; 0 / patched receptors
  • [Number-of-references] 38
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79. Lane JE, Allen JH, Lane TN, Lesher JL Jr: Unilateral Basal cell carcinomas: an unusual entity treated with photodynamic therapy. J Cutan Med Surg; 2005 Dec;9(6):336-40
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  • [Title] Unilateral Basal cell carcinomas: an unusual entity treated with photodynamic therapy.
  • BACKGROUND: Unilateral localized basal cell carcinomas are an uncommon finding that presents both a diagnostic and therapeutic challenge.
  • Exclusion of unilateral nevoid basal cell carcinoma syndrome is indicated.
  • OBJECTIVE: We present a patient with unilateral localized basal cell carcinomas who was successfully treated with photodynamic therapy.
  • The patient had an excellent therapeutic response with no clinically apparent basal cell carcinomas for 18 months.
  • CONCLUSIONS: We report a patient with unilateral basal cell carcinomas successfully treated with photodynamic therapy.
  • This uncommon entity represents a diagnostic challenge in its inherent absence of the classic clinical and radiographic findings of nevoid basal cell carcinoma syndrome.
  • Like nevoid basal cell carcinoma syndrome, unilateral basal cell carcinomas poses a therapeutic challenge with the sheer number of cutaneous tumors.
  • [MeSH-major] Aminolevulinic Acid / therapeutic use. Carcinoma, Basal Cell / drug therapy. Photochemotherapy. Photosensitizing Agents / therapeutic use. Skin Neoplasms / drug therapy
  • [MeSH-minor] Basal Cell Nevus Syndrome / diagnosis. Diagnosis, Differential. Follow-Up Studies. Humans. Male. Middle Aged. Time Factors. Treatment Outcome

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  • (PMID = 16699902.001).
  • [ISSN] 1203-4754
  • [Journal-full-title] Journal of cutaneous medicine and surgery
  • [ISO-abbreviation] J Cutan Med Surg
  • [Language] eng
  • [Publication-type] Case Reports; Comparative Study; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Photosensitizing Agents; 88755TAZ87 / Aminolevulinic Acid
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80. Nieuwenhuis E, Motoyama J, Barnfield PC, Yoshikawa Y, Zhang X, Mo R, Crackower MA, Hui CC: Mice with a targeted mutation of patched2 are viable but develop alopecia and epidermal hyperplasia. Mol Cell Biol; 2006 Sep;26(17):6609-22
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  • The Patched1 (Ptc1) gene, encoding the Hh receptor, is mutated in nevoid basal cell carcinoma syndrome, a human genetic disorder associated with developmental abnormalities and increased incidences of basal cell carcinoma (BCC) and medulloblastoma (MB).
  • Ptc1 mutations also occur in sporadic forms of BCC and MB.
  • [MeSH-major] Alopecia / pathology. Fetal Viability. Gene Targeting. Hair Follicle / pathology. Mutation / genetics. Receptors, Cell Surface / metabolism


81. Bergman A, Contard P, Spencer J: Multiple basal cell carcinomas in a young adult treated with imiquimod 5%: a case report and literature review. J Drugs Dermatol; 2005 Jan-Feb;4(1):95-7
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  • [Title] Multiple basal cell carcinomas in a young adult treated with imiquimod 5%: a case report and literature review.
  • We present a case of basal cell carcinoma that is unique in the literature with regard to the rare combination of age of onset and number of BCCs at initial presentation that was successfully treated with imiquimod 5%.
  • There were no signs or symptoms of a syndrome or disease entity known to cause BCC.
  • Shave biopsies revealed basal cell carcinoma in all 7 lesions.
  • The presentation of this number of de novo BCCs in a patient this young in absence of a known BCC syndrome has, to the best of our knowledge, not previously been reported in the literature and was successfully treated with imiquimod 5%.
  • [MeSH-major] Aminoquinolines / therapeutic use. Antineoplastic Agents / therapeutic use. Carcinoma, Basal Cell / drug therapy. Skin Neoplasms / drug therapy

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  • (PMID = 15696993.001).
  • [ISSN] 1545-9616
  • [Journal-full-title] Journal of drugs in dermatology : JDD
  • [ISO-abbreviation] J Drugs Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Aminoquinolines; 0 / Antineoplastic Agents; 99011-02-6 / imiquimod
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82. Song YL, Zhang WF, Peng B, Wang CN, Wang Q, Bian Z: Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome. Tumour Biol; 2006;27(4):175-80
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  • [Title] Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome.
  • BACKGROUND/AIMS: Odontogenic keratocysts (OKC) are aggressive lesions in the jaws, which can occur as isolated cases or in association with nevoid basal cell carcinoma syndrome (NBCCS).
  • Mutations on PTCH gene have been identified in patients with NBCCS.
  • This study aims to investigate germline mutations of PTCH in families with OKC and NBCCS.
  • METHODS: Three Chinese families with OKC and NBCCS were enrolled in the study.
  • The diagnosis was based on examination and medical history.
  • RESULTS: One family with isolated OKC (family 1) and the other two families with NBCCS were diagnosed.
  • Three novel germline mutations in PTCH were identified, including a missense mutation (p.S1089 > P) in family 1, a nonsense mutation (p.Q160X) in family 2 and a de novo mutation (c.768_777delGACAAACTTC) in family 3.
  • The results suggest that germline mutations on PTCH can cause isolated OKC, and that the PTCH gene responsible for NBCCS plays an important role in the formation of OKCs even when they are not syndrome-related.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Germ-Line Mutation. Odontogenic Cyst, Calcifying / genetics. Receptors, Cell Surface / genetics

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  • [Copyright] Copyright 2006 S. Karger AG, Basel.
  • (PMID = 16675912.001).
  • [ISSN] 1010-4283
  • [Journal-full-title] Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine
  • [ISO-abbreviation] Tumour Biol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Receptors, Cell Surface; 9007-49-2 / DNA
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83. Tostar U, Malm CJ, Meis-Kindblom JM, Kindblom LG, Toftgård R, Undén AB: Deregulation of the hedgehog signalling pathway: a possible role for the PTCH and SUFU genes in human rhabdomyoma and rhabdomyosarcoma development. J Pathol; 2006 Jan;208(1):17-25
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  • The naevoid basal cell carcinoma syndrome (NBCCS) is caused by mutations in the hedgehog receptor PTCH gene.
  • It is characterized by developmental defects and a predisposition to the development of certain tumours, such as basal cell carcinoma, medulloblastoma and meningioma, and potentially fetal rhabdomyomas and embryonal rhabdomyosarcomas.
  • This study aimed to analyse PTCH status in an NBCCS patient with fetal rhabdomyoma and to investigate whether deregulation of hedgehog signalling, as shown by altered expression of hedgehog pathway components and/or genetic imbalances, is a general finding in sporadic rhabdomyomas and rhabdomyosarcomas.
  • The NBCCS patient had a novel PTCH germ-line mutation, 1370insT, and developed a fetal rhabdomyoma that harboured a 30 bp in-frame deletion in the second allele resulting in homozygous inactivation of PTCH.
  • [MeSH-major] Receptors, Cell Surface / genetics. Repressor Proteins / genetics. Rhabdomyoma / genetics. Rhabdomyosarcoma / genetics. Signal Transduction / genetics
  • [MeSH-minor] Adolescent. Adult. Aged. Carcinoma, Basal Cell / genetics. Child. Female. Gene Expression Regulation, Neoplastic / genetics. Genes, Neoplasm / genetics. Humans. Immunohistochemistry / methods. In Situ Hybridization. Infant. Loss of Heterozygosity / genetics. Male. Middle Aged. Mutation / genetics. Neoplasm Proteins / genetics. RNA, Messenger / genetics. RNA, Neoplasm / genetics. Rhabdomyosarcoma, Embryonal / genetics. Submandibular Gland Neoplasms

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  • [Copyright] Copyright 2005 Pathological Society of Great Britain and Ireland.
  • (PMID = 16294371.001).
  • [ISSN] 0022-3417
  • [Journal-full-title] The Journal of pathology
  • [ISO-abbreviation] J. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Neoplasm Proteins; 0 / RNA, Messenger; 0 / RNA, Neoplasm; 0 / Receptors, Cell Surface; 0 / Repressor Proteins; 0 / SUFU protein, human; 0 / patched receptors
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84. Cruickshank S, Kennedy C, Lockhart K, Dosser I, Dallas L: Specialist breast care nurses for supportive care of women with breast cancer. Cochrane Database Syst Rev; 2008;(1):CD005634
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  • BACKGROUND: Breast Care Nurses (BCNs) are now established internationally, predominantly in well resourced healthcare systems.
  • The role of BCNs has expanded to reflect the diversity of the population in which they work, and the improvements in survival of women with breast cancer.
  • Interventions by BCNs aim to support women and help them cope with the impact of the disease on their quality of life.
  • OBJECTIVES: To assess the effectiveness of individual interventions carried out by BCN's on quality of life outcomes for women with breast cancer.
  • SELECTION CRITERIA: Randomised controlled trials assessing the effects of interventions carried out by BCN's on quality of life outcomes, for women with breast cancer.
  • Three studies assessing psychosocial nursing interventions around diagnosis and early treatment found that the BCN could affect some components of quality of life, such as anxiety and early recognition of depressive symptoms.
  • However, their impact on social and functional aspects of the disease trajectory was inconclusive.
  • AUTHORS' CONCLUSIONS: There is limited evidence at this time to support the contention that interventions by BCNs assist in the short-term with the recognition and management of psychological distress for women with breast cancer.
  • Further research is required before the impact of BCNs on aspects of quality of life for women with breast cancer can be known.

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  • (PMID = 18254086.001).
  • [ISSN] 1469-493X
  • [Journal-full-title] The Cochrane database of systematic reviews
  • [ISO-abbreviation] Cochrane Database Syst Rev
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 61
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85. García-Oguiza A, Miralbés-Terraza S, Calvo-Martín M, Labarta-Aizpun J, López-Pisón J, Marco-Tello A, Rebage V: [Neonatal Gorlin syndrome associated to hemimegalencephaly confirmed by genetic study]. Rev Neurol; 2006 Aug 16-31;43(4):251-2
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  • [Title] [Neonatal Gorlin syndrome associated to hemimegalencephaly confirmed by genetic study].
  • [Transliterated title] Síndrome de Gorlin neonatal asociado a hemimegalencefalia confirmado por estudio genético.
  • [MeSH-major] Basal Cell Nevus Syndrome. Nervous System Malformations
  • [MeSH-minor] Adult. Base Sequence. Female. Humans. Infant. Infant, Newborn. Male. Molecular Sequence Data. Mutation. Receptors, Cell Surface / genetics


86. Lv Y, Chen WT, He RG: [Research advances on genetics of nevoid basal cell carcinoma syndrome]. Shanghai Kou Qiang Yi Xue; 2005 Oct;14(5):536-9
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  • [Title] [Research advances on genetics of nevoid basal cell carcinoma syndrome].
  • Nevoid basal cell carcinoma syndrome is an autosomal dominant genetic disease characterized by developmental abnormalities and tumorigenesis.
  • Currently the mutation of PTCH gene is considered to be the molecular defect of this syndrome.
  • This paper reviews the present status and progress on genetics about this syndrome.
  • [MeSH-major] Receptors, Cell Surface / genetics
  • [MeSH-minor] Basal Cell Nevus Syndrome. Humans. Mutation

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  • (PMID = 16288339.001).
  • [ISSN] 1006-7248
  • [Journal-full-title] Shanghai kou qiang yi xue = Shanghai journal of stomatology
  • [ISO-abbreviation] Shanghai Kou Qiang Yi Xue
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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87. Cavalcante RB, Pereira KM, Nonaka CF, Nogueira RL, de Souza LB: Immunohistochemical expression of MMPs 1, 7, and 26 in syndrome and nonsyndrome odontogenic keratocysts. Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2008 Jul;106(1):99-105
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  • [Title] Immunohistochemical expression of MMPs 1, 7, and 26 in syndrome and nonsyndrome odontogenic keratocysts.
  • OBJECTIVE: The objective of this study was to analyze the expression of matrix metalloproteinases (MMPs) 1, 7, and 26 in odontogenic keratocysts (OKCs) associated with Gorlin syndrome (SOKCs) and nonsyndrome OKCs (NSOKCs).
  • Furthermore, the presence of these proteases at higher levels in SOKCs may help to explain increased OKC aggressiveness associated with nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / metabolism. Matrix Metalloproteinase 1 / biosynthesis. Matrix Metalloproteinase 7 / biosynthesis. Matrix Metalloproteinases, Secreted / biosynthesis. Odontogenic Cysts / enzymology
  • [MeSH-minor] Female. Humans. Immunohistochemistry. Keratins. Male. Syndrome

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  • (PMID = 18585626.001).
  • [ISSN] 1528-395X
  • [Journal-full-title] Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
  • [ISO-abbreviation] Oral Surg Oral Med Oral Pathol Oral Radiol Endod
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 68238-35-7 / Keratins; EC 3.4.24.- / MMP26 protein, human; EC 3.4.24.- / Matrix Metalloproteinases, Secreted; EC 3.4.24.23 / Matrix Metalloproteinase 7; EC 3.4.24.7 / Matrix Metalloproteinase 1
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88. Tang JY, Wu A, Linos E, Parimi N, Lee W, Aszterbaum M, Asgari MM, Bickers DR, Epstein EH Jr: High prevalence of vitamin D deficiency in patients with basal cell nevus syndrome. Arch Dermatol; 2010 Oct;146(10):1105-10
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  • [Title] High prevalence of vitamin D deficiency in patients with basal cell nevus syndrome.
  • OBJECTIVES: To evaluate vitamin D status in patients with basal cell nevus syndrome (BCNS) who practice photoprotection because of their genetic predisposition to skin cancer and to determine risk factors for deficiency.
  • PATIENTS: Forty-one ambulatory patients with BCNS who participated in a 2-year chemoprevention clinical trial.
  • RESULTS: Twenty-three patients with BCNS (56%) were vitamin D deficient.
  • Patients with BCNS had mean 25(OH)D levels below those of the general population (-3 ng/mL; P = .02) and were 3 times more likely to be vitamin D deficient (56% vs 18%; P < .001).
  • CONCLUSION: Patients with BCNS may be at increased risk for vitamin D deficiency, depending on their adherence to photoprotection practices.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Skin Neoplasms / complications. Vitamin D Deficiency / epidemiology. Vitamin D Deficiency / etiology

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  • (PMID = 20956641.001).
  • [ISSN] 1538-3652
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Databank-accession-numbers] ClinicalTrials.gov/ NCT00023621
  • [Grant] United States / NCI NIH HHS / CA / U19 CA081888; United States / NIAMS NIH HHS / AR / 1K23AR056736-01; United States / NCI NIH HHS / CA / CA81888; United States / NCRR NIH HHS / RR / KL2 RR024130; United States / NIAMS NIH HHS / AR / K23 AR056736-03; United States / NCI NIH HHS / CN / CN-95116; United States / NCRR NIH HHS / RR / KL2RR024130; United States / NIAMS NIH HHS / AR / K23 AR056736
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 1406-16-2 / Vitamin D; 64719-49-9 / 25-hydroxyvitamin D
  • [Other-IDs] NLM/ NIHMS298538; NLM/ PMC3775573
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89. Wiedemeyer K, Hartschuh W: Trichoblastomas with Merkel cell proliferation in nevi sebacei in Schimmelpenning-Feuerstein-Mims syndrome--histological differentiation between trichoblastomas and basal cell carcinomas. J Dtsch Dermatol Ges; 2009 Jul;7(7):612-5
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  • [Title] Trichoblastomas with Merkel cell proliferation in nevi sebacei in Schimmelpenning-Feuerstein-Mims syndrome--histological differentiation between trichoblastomas and basal cell carcinomas.
  • The hallmark of Schimmelpenning-Feuerstein-Mims syndrome (SFMS) is a systematized nevus sebaceous that follows Blaschko lines and usually involves the face.
  • It represents a rare congenital nevus syndrome with alterations of skin, bones, CNS, eyes and heart.
  • Nevi sebacei can proliferate and develop into epithelial tumors like trichoblastoma, syringocystadenoma and basal cell carcinoma.
  • The histological differentiation between basal cell carcinoma and trichoblastoma is difficult.
  • We present an adult woman with SFMS who was followed by multiple specialties since birth without the correct diagnosis being made.
  • She was referred to us with the diagnosis of multiple basal cell carcinomas of head and face.
  • Our diagnosis of systematized nevus sebaceus was crucial for the correct classification of SFMS.
  • We identified multiple trichoblastomas in the nevi sebacei and could exclude basal cell carcinomas.
  • The essential clue was the detection of multiple Merkel cells within the epidermal layer by cytokeratin 20 staining.
  • [MeSH-major] Carcinoma, Merkel Cell / pathology. Merkel Cells / pathology. Nevus, Sebaceous of Jadassohn / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Adult. Carcinoma, Basal Cell / pathology. Cell Proliferation. Diagnosis, Differential. Female. Humans

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  • (PMID = 19192012.001).
  • [ISSN] 1610-0387
  • [Journal-full-title] Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
  • [ISO-abbreviation] J Dtsch Dermatol Ges
  • [Language] eng; ger
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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90. Higgins HJ, Voutsalath M, Holland JM: Muir-torre syndrome: a case report. J Clin Aesthet Dermatol; 2009 Aug;2(8):30-2
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  • [Title] Muir-torre syndrome: a case report.
  • Muir-Torre syndrome is an autosomal dominant genodermatosis associated with sebaceous neoplasms and visceral malignancies.
  • Characteristic sebaceous neoplasms include sebaceous adenoma, sebaceous carcinoma, sebaceoma, and keratoacanthoma with sebaceous differentiation.
  • The most common visceral malignancies are colorectal and genitourinary tumors.
  • Investigations into the molecular genetics of Muir-Torre Syndrome have revealed an association with germ-line mutations in hMSH2 and hMLH1 genes.
  • The clinical and histological features of a patient with Muir-Torre syndrome who had two sebaceous adenomas, multiple basal cell carcinomas, and frontal bossing in association with colon cancer are presented in this report.

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  • (PMID = 20729952.001).
  • [ISSN] 1941-2789
  • [Journal-full-title] The Journal of clinical and aesthetic dermatology
  • [ISO-abbreviation] J Clin Aesthet Dermatol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC2923964
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91. Fujii K, Ishikawa S, Uchikawa H, Komura D, Shapero MH, Shen F, Hung J, Arai H, Tanaka Y, Sasaki K, Kohno Y, Yamada M, Jones KW, Aburatani H, Miyashita T: High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome. Hum Genet; 2007 Dec;122(5):459-66
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome.
  • In this study, we used newly designed high-resolution oligonucleotide microarrays with a median distance between the probes of 776 bp (average probe interval 2,271 bp) to detect gene deletions in nevoid basal cell carcinoma syndrome (NBCCS) patients.
  • NBCCS, also called Gorlin syndrome, is characterized by developmental defects and tumorigenesis such as medulloblastomas and basal cell carcinomas, caused by mutations of the human patched-1 (PTCH1) gene.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Sequence Deletion
  • [MeSH-minor] Base Sequence. Child. Chromosomes, Human, Pair 9 / genetics. DNA Mutational Analysis. DNA, Neoplasm / genetics. Humans. Male. Molecular Sequence Data. Oligonucleotide Array Sequence Analysis / methods. Patched Receptors. Patched-1 Receptor. Receptors, Cell Surface / genetics. Sequence Homology, Nucleic Acid

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  • (PMID = 17703323.001).
  • [ISSN] 1432-1203
  • [Journal-full-title] Human genetics
  • [ISO-abbreviation] Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Receptors, Cell Surface
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92. Omrani H, Hui Bon Hoa I, Bennis H, Lehmann M, Zerr V: [Recurrent ovarian fibromas in condition of Gorlin syndrome]. J Gynecol Obstet Biol Reprod (Paris); 2010 Nov;39(7):584-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Recurrent ovarian fibromas in condition of Gorlin syndrome].
  • [Transliterated title] Fibromes ovariens récidivants dans le cadre du syndrome de Gorlin: à propos d'un cas.
  • Gorlin syndrome also known as basal cell nevus syndrome is a rare autosomal dominant condition with variable expression.
  • This syndrome is characterized by many anomalies of development and by the propensity of developing multiple neoplasms.
  • We report a case of a 20-years-old French patient who has relapsing ovarian bilateral fibromas in condition of Gorlin syndrome.
  • These fibromas are present in 25 % of Gorlin syndrome cases, which often are bilateral.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Fibroma / diagnosis. Ovarian Neoplasms / diagnosis

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  • [Copyright] Copyright © 2010 Elsevier Masson SAS. All rights reserved.
  • (PMID = 20599329.001).
  • [ISSN] 1773-0430
  • [Journal-full-title] Journal de gynécologie, obstétrique et biologie de la reproduction
  • [ISO-abbreviation] J Gynecol Obstet Biol Reprod (Paris)
  • [Language] fre
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] France
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93. Honma M, Ohishi Y, Uehara J, Ibe M, Kinouchi M, Ishida-Yamamoto A, Iizuka H: A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome. J Dermatol Sci; 2008 Apr;50(1):73-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation. Receptors, Cell Surface / genetics. Skin Neoplasms / genetics

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  • (PMID = 18068337.001).
  • [ISSN] 0923-1811
  • [Journal-full-title] Journal of dermatological science
  • [ISO-abbreviation] J. Dermatol. Sci.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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94. Uchikawa H, Toyoda M, Nagao K, Miyauchi H, Nishikawa R, Fujii K, Kohno Y, Yamada M, Miyashita T: Brain- and heart-specific Patched-1 containing exon 12b is a dominant negative isoform and is expressed in medulloblastomas. Biochem Biophys Res Commun; 2006 Oct 13;349(1):277-83
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Mutations in the human tumor suppressor gene, Patched-1, are associated with nevoid basal cell carcinoma syndrome characterized by developmental abnormalities and tumorigenesis, such as basal cell carcinoma and medulloblastoma.
  • Interestingly, Patched12b was found to be expressed in some of the medulloblastoma tissues and cell lines, indicating an important role in the pathogenesis of medulloblastoma as well as brain development.
  • [MeSH-major] Brain / metabolism. Gene Expression Regulation, Neoplastic. Medulloblastoma / metabolism. Myocardium / metabolism. Receptors, Cell Surface / biosynthesis. Receptors, Cell Surface / genetics

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  • (PMID = 16934747.001).
  • [ISSN] 0006-291X
  • [Journal-full-title] Biochemical and biophysical research communications
  • [ISO-abbreviation] Biochem. Biophys. Res. Commun.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Protein Isoforms; 0 / Receptors, Cell Surface; 0 / patched receptors
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95. Klein RD, Dykas DJ, Bale AE: Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med; 2005 Nov-Dec;7(9):611-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.
  • PURPOSE: This study determines which clinical features predict positive test results among samples submitted for DNA-based diagnostic nevoid basal cell carcinoma syndrome (NBCCS) testing, and further defines the mutational spectrum of the PTCH gene.
  • There were 11 nonsense mutations; 1 in-frame deletion; 17 deletions, 6 insertions, and 1 deletion-insertion that generated frameshifts; 5 splice-site mutations; 1 in-frame duplication; and 2 presumptive missense mutations.
  • Twenty-seven of 46 pedigrees (58.7%) with two or more typical radiographic or pathologic features of NBCCS tested positive for PTCH mutations.
  • Of these, 26 had jaw cysts in combination with other characteristics or neoplasms including basal cell carcinomas, palmar pits, skeletal abnormalities, ocular abnormalities, medulloblastomas, cardiac or ovarian fibromas, calcification of the falx cerebri, polydactyly, cleft lip and/or palate, and agenesis of the corpus callosum or other central nervous system malformations.
  • None of the 13 pedigrees solely affected by multiple or early-onset basal cell carcinomas and none of the four pedigrees with jaw cysts alone had PTCH mutations.
  • CONCLUSIONS: Pedigrees with multiple features of NBCCS were most likely to test positive for PTCH mutations.
  • Pedigrees with multiple or early-onset basal cell carcinomas without other features of the disease did not test positive for PTCH mutations.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Genetic Testing / statistics & numerical data. Receptors, Cell Surface / genetics

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  • (PMID = 16301862.001).
  • [ISSN] 1098-3600
  • [Journal-full-title] Genetics in medicine : official journal of the American College of Medical Genetics
  • [ISO-abbreviation] Genet. Med.
  • [Language] eng
  • [Grant] United States / NIGMS NIH HHS / GM / 5T32GM008753; United States / NCI NIH HHS / CA / R01CA93908
  • [Publication-type] Comparative Study; Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers; 0 / Receptors, Cell Surface; 0 / patched receptors
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96. Büyükpamukçu M, Varan A, Yazici N, Akalan N, Söylemezoğlu F, Zorlu F, Akyüz C, Kutluk MT: Second malignant neoplasms following the treatment of brain tumors in children. J Child Neurol; 2006 May;21(5):433-6
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  • [Title] Second malignant neoplasms following the treatment of brain tumors in children.
  • We investigated retrospectively 992 children with central nervous system tumors who were treated at our center between 1970 and 2004.
  • The second malignant neoplasms were diagnosed as non-Hodgkin lymphoma, myelodysplastic syndrome, basal cell carcinoma, malignant melanoma, Kaposi sarcoma, and high-grade neuroectodermal tumor.
  • The patients who developed non-Hodgkin lymphoma and myelodysplastic syndrome died of progressive disease.
  • A wide spectrum of second malignant neoplasms was detected after treatment of primary brain tumors with surgery, radiotherapy, and chemotherapy.

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  • (PMID = 16901454.001).
  • [ISSN] 0883-0738
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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97. Flohil SC, de Vries E, van Meurs JB, Fang Y, Stricker BH, Uitterlinden AG, Nijsten T: Vitamin D-binding protein polymorphisms are not associated with development of (multiple) basal cell carcinomas. Exp Dermatol; 2010 Dec;19(12):1103-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Vitamin D-binding protein polymorphisms are not associated with development of (multiple) basal cell carcinomas.
  • The objective was to test the association between two functional VDBP SNPs and the susceptibility to (multiple) basal cell carcinomas (BCCs).
  • Two hundred and thirty-three persons developed a BCC of whom 122 (52.4%) developed multiple BCCs during a mean follow-up of 11.6 years.
  • The VDBP genotype was not associated with (multiple) BCC development using Cox proportional hazards and Andersen-Gill analyses, respectively.
  • Stratifying age groups demonstrated that in the youngest age-group, the A/T variant of rs7041 was associated with BCC development [adjusted hazard ratio (HR) = 1.88 (95%CI 1.10-3.20)], while homozygote Gc1s carriers had a significantly lower BCC risk [adjusted HR = 0.53 (95%CI 0.31-0.91)].
  • In conclusion, the VDBP polymorphisms were not associated with susceptibility to (multiple) BCCs, but age-gene interactions were observed.
  • [MeSH-major] Carcinoma, Basal Cell / genetics. Polymorphism, Single Nucleotide / genetics. Vitamin D-Binding Protein / genetics

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  • [Copyright] © 2010 John Wiley & Sons A/S.
  • (PMID = 20812960.001).
  • [ISSN] 1600-0625
  • [Journal-full-title] Experimental dermatology
  • [ISO-abbreviation] Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Vitamin D-Binding Protein
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98. Habibi A, Saghravanian N, Habibi M, Mellati E, Habibi M: Keratocystic odontogenic tumor: a 10-year retrospective study of 83 cases in an Iranian population. J Oral Sci; 2007 Sep;49(3):229-35
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  • [Title] Keratocystic odontogenic tumor: a 10-year retrospective study of 83 cases in an Iranian population.
  • A retrospective analysis was conducted on patients diagnosed with and treated for keratocystic odontogenic tumor (KCOT) at Mashhad School of Dentistry between 1996 and 2006.
  • Six patients (8.1%) with a total of 15 lesions had nevoid basal cell carcinoma syndrome; 28 lesions (33.7%) were associated with an impacted tooth, and 12 (14.5%) presented daughter cysts.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Mandibular Neoplasms / pathology. Maxillary Neoplasms / pathology. Neoplasms, Cystic, Mucinous, and Serous / pathology. Odontogenic Tumors / pathology

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  • (PMID = 17928730.001).
  • [ISSN] 1343-4934
  • [Journal-full-title] Journal of oral science
  • [ISO-abbreviation] J Oral Sci
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Japan
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99. Nishigori C, Arima Y, Matsumura Y, Matsui M, Miyachi Y: Impaired removal of 8-hydroxydeoxyguanosine induced by UVB radiation in naevoid basal cell carcinoma syndrome cells. Br J Dermatol; 2005 Dec;153 Suppl 2:52-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Impaired removal of 8-hydroxydeoxyguanosine induced by UVB radiation in naevoid basal cell carcinoma syndrome cells.
  • BACKGROUND: The naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by tumorigenesis such as multiple basal cell carcinomas, odontogenic keratocysts and developmental abnormalities such as calcified dural folds and rib-anomalies.
  • OBJECTIVES: To Investigate the role of UV in development of BCCs in NBCCS, cellular sensitivity to killing by UVB and removal of UVB-induced oxidative DNA damage were examined using fibroblasts derived from patients with NBCCS under physiologically relevant doses of UVB exposure.
  • PATIENTS AND METHODS: Three patients with NBCCS, a 59-year-old male patient, an 18-year-old boy and a 13-year-old boy were examined by photobiological analysis.
  • RESULTS: All three cell strains derived from the patients with NBCCS were hypersensitive to killing by UVB (D10: 50-70% of normal) but not by UVC.
  • After UVB exposure, the production of 8-OHdG increased dose dependently up to 3200 J m-2 in both NBCCS cells and normal cells.
  • In normal cells, 8-OHdG after UVB exposure returned to its basal level during 24 h, whereas in NBCCS cells the amount of 8-OHdG after 800 J m-2 of UVB exposure did not return to its basal level even after 24 h.
  • The result indicates the removal of 8-OHdG could be impaired in NBCCS cells.
  • Ability in removal of thymine dimers of NBCCS cells was similar to that of normal cells.
  • CONCLUSIONS: Hypersensitivity to UVB can be one of the diagnostic tools of NBCCS for those whose clinical features have not yet completed.
  • Hypersensitivity to cell killing and the impairment of removal of 8-OHdG after UVB exposure may play some role in developing BCCs and other tumours in NBCCS.
  • [MeSH-major] Basal Cell Nevus Syndrome / metabolism. Deoxyguanosine / analogs & derivatives. Photosensitivity Disorders / metabolism. Skin Neoplasms / metabolism. Ultraviolet Rays / adverse effects
  • [MeSH-minor] Adolescent. Adult. Case-Control Studies. Cell Death. Cells, Cultured. Chromatography, High Pressure Liquid. Dimerization. Dose-Response Relationship, Radiation. Female. Humans. Male. Middle Aged. Thymine / metabolism

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  • (PMID = 16280022.001).
  • [ISSN] 0007-0963
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 88847-89-6 / 8-oxo-7-hydrodeoxyguanosine; G9481N71RO / Deoxyguanosine; QR26YLT7LT / Thymine
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100. Macarie S, Rusu IR, Macarie D: [Gorlin syndrome--case report]. Oftalmologia; 2010;54(4):82-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Gorlin syndrome--case report].
  • [Transliterated title] Sindrom Gorlin--prezentare de caz.
  • The authors present a female case diagnosed with Gorlin syndrome before admission to the Ophthalmology clinic.
  • There are presented types of diagnosis, evolution and treatment in this case.
  • [MeSH-major] Abnormalities, Multiple. Basal Cell Nevus Syndrome. Eyelid Neoplasms. Facial Bones / abnormalities. Intellectual Disability / complications. Skull / abnormalities
  • [MeSH-minor] Epidermal Cyst / diagnosis. Epidermal Cyst / surgery. Eyelid Diseases / diagnosis. Eyelid Diseases / surgery. Female. Humans. Middle Aged. Ophthalmologic Surgical Procedures. Treatment Outcome

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  • (PMID = 21516867.001).
  • [ISSN] 1220-0875
  • [Journal-full-title] Oftalmologia (Bucharest, Romania : 1990)
  • [ISO-abbreviation] Oftalmologia
  • [Language] rum
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Romania
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