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1. Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T: Clinical features of microdeletion 9q22.3 (pat). Clin Genet; 2009 Apr;75(4):384-93
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  • Congenital anomaly syndromes manifesting overgrowth are rare, and only a small number of recognized or defined conditions are known to be associated with overgrowth.
  • We report a girl who showed pre- and postnatal overgrowth who was found to have a 2.3-Mb deletion of 9q22.32 involving PTCH1, the gene responsible for Gorlin syndrome (nevoid basal cell carcinoma syndrome), by array-comparative genomic hybridization analysis.
  • Clinical re-evaluation according to the diagnostic criteria was performed after identification of the PTCH1 deletion, and the patient was then diagnosed as having Gorlin syndrome.
  • Overgrowth is not a common finding in Gorlin syndrome.
  • [MeSH-minor] Basal Cell Nevus Syndrome / genetics. Developmental Disabilities / genetics. Fathers. Female. Genomic Imprinting. Humans. Infant, Newborn. Receptors, Cell Surface / genetics

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  • (PMID = 19320658.001).
  • [ISSN] 1399-0004
  • [Journal-full-title] Clinical genetics
  • [ISO-abbreviation] Clin. Genet.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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2. Auluck A, Pai KM: Treatment of recurrent odontogenic keratocyst: a known but forgotten point. Br J Oral Maxillofac Surg; 2006 Feb;44(1):74-5
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  • [Title] Treatment of recurrent odontogenic keratocyst: a known but forgotten point.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Odontogenic Cysts / diagnosis
  • [MeSH-minor] Diagnosis, Differential. Epithelium / pathology. Humans. Keratins. Recurrence

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  • (PMID = 15946778.001).
  • [ISSN] 0266-4356
  • [Journal-full-title] The British journal of oral & maxillofacial surgery
  • [ISO-abbreviation] Br J Oral Maxillofac Surg
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] Scotland
  • [Chemical-registry-number] 68238-35-7 / Keratins
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3. 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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4. 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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5. Matysik-Woźniak A, Gerkowicz M, Pawłowska-Wakowicz B: Basal cell carcinoma in an eyelid of a farmer with Sturge-Weber syndrome. Ann Agric Environ Med; 2007;14(2):325-7
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  • [Title] Basal cell carcinoma in an eyelid of a farmer with Sturge-Weber syndrome.
  • The paper presents the coexistence of a nevus flammeus and basal cell carcinoma affecting the left upper lid of 61-year-old farmer with Sturge-Weber syndrome.
  • The occurrence of basal cell carcinoma in nevus flammeus is extremely rare.
  • It is difficult to diagnose neoplastic transformations that could arise in the nevus flammeus.
  • [MeSH-major] Carcinoma, Basal Cell / diagnosis. Eyelid Neoplasms / diagnosis
  • [MeSH-minor] Diagnosis, Differential. Humans. Male. Middle Aged. Sturge-Weber Syndrome / complications. Sturge-Weber Syndrome / pathology. Sunlight / adverse effects. Treatment Outcome

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  • (PMID = 18247471.001).
  • [ISSN] 1232-1966
  • [Journal-full-title] Annals of agricultural and environmental medicine : AAEM
  • [ISO-abbreviation] Ann Agric Environ Med
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Poland
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6. Ortega García de Amezaga A, García Arregui O, Zepeda Nuño S, Acha Sagredo A, Aguirre Urizar JM: Gorlin-Goltz syndrome: clinicopathologic aspects. Med Oral Patol Oral Cir Bucal; 2008 Jun;13(6):E338-43
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  • [Title] Gorlin-Goltz syndrome: clinicopathologic aspects.
  • Gorlin-Goltz syndrome, also known as nevoid basal cell carcicoma syndrome, comes into being due to a genetic alteration produced by a mutation in the "Patched" tumour suppressor gene, and it is inherited in a dominant autosomal way, though sporadic cases have been found.
  • This syndrome shows a high penetrance and variable expressiveness.
  • It is about a multisystemic process that is characterised by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falxcerebri.
  • The latter include numerous skeletical, dermatology related and neurological anomalies among others.
  • In some occasions, the presence of very aggressive basocellular carcinomas has been described as well as other malignant neoplasias.
  • Due to the importance of oral maxillofacial manifestations of this syndrome, it is fundamental to know its characteristic in order to make a diagnosis, an early preventive treatment and establish right genetic advice.
  • In this work the main clinicopathologic and the therapeutic aspects related to the syndrome under consideration have been revised and updated.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Mouth Neoplasms / diagnosis

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  • (PMID = 18521051.001).
  • [ISSN] 1698-6946
  • [Journal-full-title] Medicina oral, patología oral y cirugía bucal
  • [ISO-abbreviation] Med Oral Patol Oral Cir Bucal
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Spain
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7. 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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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. Berment H, Genevois A, Dacher JN, Sabourin JC: [Multiple ovarian fibromas in a patient with Gorlin syndrome: US and MR imaging features with pathological correlation]. J Radiol; 2010 Sep;91(9 Pt 1):917-20
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  • [Title] [Multiple ovarian fibromas in a patient with Gorlin syndrome: US and MR imaging features with pathological correlation].
  • [Transliterated title] Fibromes ovariens multiples chez une patiente atteinte du syndrome de Gorlin.
  • We report a case of multiple ovarian fibromas in a 23 year old woman with Gorlin syndrome.
  • The fibrous component of the tumors were hypoechoic and attenuating on US with corresponding T2W hypointensity whereas myxoid components were hypoechoic with increased through transmission on US with corresponding T2W hyperintensity.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Endosonography. Fibroma / diagnosis. Image Processing, Computer-Assisted. Magnetic Resonance Imaging. Neoplasms, Multiple Primary / diagnosis. Ovarian Neoplasms / diagnosis. Pregnancy Complications, Neoplastic / diagnosis. Ultrasonography. Ultrasonography, Doppler, Color


10. Saran A: Basal cell carcinoma and the carcinogenic role of aberrant Hedgehog signaling. Future Oncol; 2010 Jun;6(6):1003-14
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  • [Title] Basal cell carcinoma and the carcinogenic role of aberrant Hedgehog signaling.
  • Basal cell carcinoma (BCC) is the most frequent cancer in the white population and its incidence appears to be increasing worldwide.
  • While the majority of BCCs arise sporadically, many cases are attributable to basal cell nevus syndrome, or Gorlin syndrome, an autosomal dominantly inherited disorder characterized by the occurrence of multiple BCCs and by extracutaneous tumors.
  • Genetic studies on patients with basal cell nevus syndrome indicate deregulation of the Hedgehog (Hh) pathway in epidermal keratinocytes as the primary event in the pathogenesis of BCC.
  • This article summarizes the recent progress in understanding Hh-dependent BCC tumorigenesis, as well as evidence for deregulation of other molecular pathways, primarily the Wnt developmental pathway.
  • Understanding the molecular genetics of BCC development has provided new opportunities for molecular therapy of this cancer by targeting Hh and other signaling pathways.
  • [MeSH-major] Carcinoma, Basal Cell / genetics. Cell Transformation, Neoplastic / genetics. Hedgehog Proteins / physiology. Neoplasm Proteins / physiology. Signal Transduction / physiology. Skin Neoplasms / genetics
  • [MeSH-minor] Animals. Basal Cell Nevus Syndrome / genetics. Basal Cell Nevus Syndrome / pathology. Cilia / physiology. DNA Repair. Forkhead Transcription Factors / physiology. Hair Follicle / growth & development. Humans. Keratinocytes / metabolism. Mammals / genetics. Mice. Mice, Knockout. Mice, Transgenic. PTEN Phosphohydrolase / physiology. Receptors, Cell Surface / deficiency. Receptors, Cell Surface / genetics. Receptors, Cell Surface / physiology. Receptors, G-Protein-Coupled / genetics. Receptors, G-Protein-Coupled / physiology. Repressor Proteins / deficiency. Repressor Proteins / genetics. Repressor Proteins / physiology. Skin / growth & development. Wnt Proteins / physiology

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  • (PMID = 20528237.001).
  • [ISSN] 1744-8301
  • [Journal-full-title] Future oncology (London, England)
  • [ISO-abbreviation] Future Oncol
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Forkhead Transcription Factors; 0 / Hedgehog Proteins; 0 / Neoplasm Proteins; 0 / Receptors, Cell Surface; 0 / Receptors, G-Protein-Coupled; 0 / Repressor Proteins; 0 / SMO protein, human; 0 / SUFU protein, human; 0 / Smo protein, mouse; 0 / Sufu protein, mouse; 0 / Wnt Proteins; 0 / patched receptors; EC 3.1.3.67 / PTEN Phosphohydrolase
  • [Number-of-references] 150
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11. 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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12. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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13. Varan A, Gököz A, Akyüz C, Kutluk T, Yalçin B, Köksal Y, Büyükpamukçu M: Primary malignant skin tumors in children: etiology, treatment and prognosis. Pediatr Int; 2005 Dec;47(6):653-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Primary malignant skin tumors in children: etiology, treatment and prognosis.
  • OBJECTIVE: The aim of the study was to evaluate the etiology, treatment and prognosis of the malignant skin tumors in children.
  • METHODS: Twenty-one patients who had been diagnosed with malignant skin tumors between 1972 and 2003 were retrospectively analyzed.
  • We had nine (42.9%) patients with malignant melanoma, five (23.8%) with primary skin non-Hodgkin lymphoma, three (14.3%) with Kaposi sarcoma (KS), two (9.5%) with basal cell carcinoma (BCC), and two (9.5%) with squamous cell carcinoma (SCC).
  • Two KS cases were associated with renal transplantation, two cases of malignant melanoma occurred within the area of giant hairy cell nevus, one melanoma patient previously had bone marrow transplantation due to Gricelli syndrome, one patient with BCC had xeroderma pigmentosum and the other BCC had got radiotherapy due to previous diagnosis of medulloblastoma.
  • CONCLUSION: Although malignant skin tumors are rare in childhood, the prognosis is relatively better than it is for adults.
  • [MeSH-major] Carcinoma, Basal Cell. Carcinoma, Squamous Cell. Lymphoma. Melanoma. Sarcoma, Kaposi. Skin Neoplasms


14. Crawford JR, Rood BR, Rossi CT, Vezina G: Medulloblastoma associated with novel PTCH mutation as primary manifestation of Gorlin syndrome. Neurology; 2009 May 5;72(18):1618
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Medulloblastoma associated with novel PTCH mutation as primary manifestation of Gorlin syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / genetics. Genetic Predisposition to Disease / genetics. Medulloblastoma / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 19414732.001).
  • [ISSN] 1526-632X
  • [Journal-full-title] Neurology
  • [ISO-abbreviation] Neurology
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / Genetic Markers; 0 / Receptors, Cell Surface; 0 / patched receptors
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15. Ackerman AB: Nevoid basal cell carcinoma syndrome versus generalized basaloid follicular hamartoma syndrome. J Cutan Pathol; 2009 May;36(5):603; author reply 604
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevoid basal cell carcinoma syndrome versus generalized basaloid follicular hamartoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Hamartoma Syndrome, Multiple / pathology. Skin Neoplasms / pathology


16. Li TJ, Yuan JW, Gu XM, Sun LS, Zhao HS: PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients. Oral Dis; 2008 Mar;14(2):174-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients.
  • OBJECTIVES: PTCH, the human homologue of the Drosophila segment polarity gene, patched, has been identified as the gene responsible for nevoid basal cell carcinoma syndrome.
  • The aim of this study was to investigate PTCH gene mutation in Chinese patients with nevoid basal cell carcinoma syndrome.
  • MATERIALS AND METHODS: DNA was isolated from both odontogenic keratocyst tissue and peripheral blood of five patients with syndrome and one patient with only multiple odontogenic keratocysts, and mutational analysis of the PTCH gene performed by direct sequencing after amplification of all 23 exons by polymerase chain reaction (PCR).
  • Three novel germline PTCH mutations (c.1338_1339insGCG, c.331delG and c.1939A>T) were detected in three unrelated patients with syndrome.
  • The patient with multiple odontogenic keratocysts who failed to fulfill the diagnostic criteria of the syndrome also carried a novel germline mutation (c.317T>G).
  • CONCLUSION: The frequent germline PTCH mutations detected in our series provide further evidence for the crucial role of PTCH in the pathogenesis of nevoid basal cell carcinoma syndrome in Chinese.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Germ-Line Mutation / genetics. Odontogenic Cysts / genetics. Odontogenic Tumors / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 18302678.001).
  • [ISSN] 1354-523X
  • [Journal-full-title] Oral diseases
  • [ISO-abbreviation] Oral Dis
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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17. Oostra RJ, Maas M: Bifid ribs and unusual vertebral anomalies diagnosed in an anatomical specimen. Gorlin syndrome? Am J Med Genet A; 2006 Oct 1;140(19):2135-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Bifid ribs and unusual vertebral anomalies diagnosed in an anatomical specimen. Gorlin syndrome?
  • A hitherto unknown combination of multiple bifid ribs, as seen in Gorlin syndrome (GS), interpedicular fusion and apparent malsegmentation of vertebral laminae at various upper thoracic levels was found in the skeleton of a newborn infant.
  • This specific combination of anomalies is also seen in the mouse open brain (opb) mutant.
  • Since the genes involved in GS (Patched2) and opb (rab23) both play an essential role in the hedgehog signaling pathway, it is likely that the cause of the anomalies presented here is to be sought in impaired functioning of this pathway.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Ribs / abnormalities. Spine / abnormalities
  • [MeSH-minor] Abnormalities, Multiple / genetics. Animals. Diagnosis, Differential. Humans. Infant, Newborn. Mice. Mutation. Phenotype

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  • (PMID = 16955411.001).
  • [ISSN] 1552-4825
  • [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
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18. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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19. 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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20. Musani V, Cretnik M, Situm M, Basta-Juzbasic A, Levanat S: Gorlin syndrome patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR. Dermatology; 2009;219(2):111-8
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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 patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR.
  • BACKGROUND: Gorlin syndrome is a rare autosomal-dominant disorder characterized by a wide range of developmental abnormalities and various tumors.
  • The syndrome is caused by mutations in PTCH1, a tumor suppressor gene located at 9q22.32.
  • We describe a Gorlin syndrome case with typical features of the syndrome and no mutations in PTCH1, but with a large deletion of the 9q22 region that has rarely been described.
  • CONCLUSION: We suggest that screening for large deletions should be included in standard mutation screening for Gorlin syndrome patients.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / genetics. Chromosome Deletion. Chromosomes, Human, Pair 9. Genetic Predisposition to Disease


21. Quatresooz P, Vandenbossche G, Piérard-Franchimont C, Piérard GE: [Skin and its main neurocristopathies]. Rev Med Liege; 2008 May-Jun;63(5-6):354-8
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  • This review covers the main aspects found in neurofibromatosis, tuberous sclerosis, incontinentia pigmenti, neurocutaneous melanoblastosis, basal cell naevomatosis and the epidermal naevus syndrome.
  • [MeSH-minor] Basal Cell Nevus Syndrome / pathology. Hamartoma / pathology. Humans. Neurofibromatoses / pathology. Skin Diseases / pathology. Tuberous Sclerosis / pathology

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  • (PMID = 18669204.001).
  • [ISSN] 0370-629X
  • [Journal-full-title] Revue médicale de Liège
  • [ISO-abbreviation] Rev Med Liege
  • [Language] fre
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Belgium
  • [Number-of-references] 10
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22. Ahmed N, Salman M, Mansoor MA: Gorlin-goltz syndrome. J Coll Physicians Surg Pak; 2007 Sep;17(9):568-9
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  • [Title] Gorlin-goltz syndrome.
  • Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome.
  • Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system.
  • In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts.
  • This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years.

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  • (PMID = 17903410.001).
  • [ISSN] 1022-386X
  • [Journal-full-title] Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
  • [ISO-abbreviation] J Coll Physicians Surg Pak
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Pakistan
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23. 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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  • [Cites] Anticancer Res. 2007 Jul-Aug;27(4A):1783-7 [17649773.001]
  • [Cites] Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1996 Feb;81(2):217-20 [8665318.001]
  • (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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24. 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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25. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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26. 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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  • [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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27. 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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  • (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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28. 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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29. Abreu Velez AM, Howard MS: Diagnosis and treatment of cutaneous paraneoplastic disorders. Dermatol Ther; 2010 Nov-Dec;23(6):662-75
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  • [Title] Diagnosis and treatment of cutaneous paraneoplastic disorders.
  • Cutaneous signs of these disorders afford clinicians opportunities for early diagnosis and treatment.
  • We aim to succinctly review the recognition, diagnosis, and treatment of selected cutaneous paraneoplastic diseases.
  • Skin disorders that may be associated with paraneoplastic syndromes include: cutaneous metastases, tripe palms, Sweet's syndrome, glucagonoma, Paget's disease and extramammary Paget's disease, acanthosis nigricans, Birt-Hogg-Dube syndrome, basal cell nevus syndrome, Bazex syndrome (acrokeratosis paraneoplastica), carcinoid syndrome, Cowden's disease(multiple hamartoma syndrome), dermatomyositis, erythema gyratum repens, ichthyosis aquisita, von Recklinghausen's disease, pityriasis rotunda, pyoderma gangrenosum, Quincke's edema (angioedema and paraneoplastic uricaria), paraneoplastic pemphigus, Degos' disease, superior vena cava syndrome, Werner's syndrome, diffuse normolipemic plane xanthomas, and yellow nail syndrome.
  • [MeSH-major] Paraneoplastic Syndromes / diagnosis. Paraneoplastic Syndromes / therapy. Skin Diseases / diagnosis. Skin Diseases / therapy

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  • [Copyright] © 2010 Wiley Periodicals, Inc.
  • (PMID = 21054710.001).
  • [ISSN] 1529-8019
  • [Journal-full-title] Dermatologic therapy
  • [ISO-abbreviation] Dermatol Ther
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Denmark
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30. 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


31. Snoeckx A, Vanhoenacker FM, Verhaert K, Chappelle K, Parizel PM: Gorlin-Goltz syndrome in a child: case report and clinical review. JBR-BTR; 2008 Nov-Dec;91(6):235-9
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  • [Title] Gorlin-Goltz syndrome in a child: case report and clinical review.
  • Gorlin-Goltz syndrome is a rare autosomal dominant disorder that involves multiple organ systems, including the skin, skeleton and jaws.
  • Imaging studies showed a unilocular well-defined lytic mandibular lesion, calcifications of the falx, bifid ribs and fusion anomalies of the ribs.
  • Based on the combination of imaging and clinical findings the diagnosis of Gorlin-Goltz syndrome was made.
  • During three-year follow-up the boy presented with recurrent and multiple odontogenic keratocysts.
  • The occurrence of multiple and recurrent keratocysts at young age, should alert the radiologist to the potential diagnosis of an underlying Gorlin-Goltz syndrome.
  • This paper reviews the imaging findings in Gorlin-Goltz syndrome, with emphasis on maxillofacial imaging.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis
  • [MeSH-minor] Brain / radiography. Child. Comorbidity. Diagnosis, Differential. Follow-Up Studies. Hand / radiography. Humans. Intellectual Disability. Male. Mandible / radiography. Mandible / surgery. Radiography, Thoracic. Rare Diseases. Tomography, X-Ray Computed

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  • (PMID = 19202996.001).
  • [ISSN] 0302-7430
  • [Journal-full-title] JBR-BTR : organe de la Société royale belge de radiologie (SRBR) = orgaan van de Koninklijke Belgische Vereniging voor Radiologie (KBVR)
  • [ISO-abbreviation] JBR-BTR
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Belgium
  • [Number-of-references] 11
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32. 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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33. 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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  • [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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34. Sobota A, Pena M, Santi M, Ali Ahmed A: Undifferentiated sinonasal carcinoma in a patient with nevoid basal cell carcinoma syndrome. Int J Surg Pathol; 2007 Jul;15(3):303-6
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  • [Title] Undifferentiated sinonasal carcinoma in a patient with nevoid basal cell carcinoma syndrome.
  • Nevoid basal cell carcinoma syndrome is an autosomal dominant multisystem disorder characterized by developmental anomalies and occurrence of multiple basal cell carcinomas and other tumors in early childhood.
  • In this article, the authors report a case of a 19-year-old African American male with nevoid basal cell carcinoma syndrome and a history of medulloblastoma at age 2, meningioma at age 14, thyroid follicular adenomas with papillary carcinoma at age 15, and 2 basal cell carcinomas at ages 16 and 18.
  • Recently, he developed sinonasal undifferentiated carcinoma (SNUC).
  • The radiology and pathology of the sinonasal carcinoma are presented in this report.
  • Review of the literature reveals that this is the first case of SNUC occurring in a patient with nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Carcinoma / etiology. Nose Neoplasms / etiology


35. Chen CP, Lin SP, Wang TH, Chen YJ, Chen M, Wang W: Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome. Prenat Diagn; 2006 Aug;26(8):725-9
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  • [Title] Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome.
  • OBJECTIVES: To present the perinatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome.
  • METHODS: Amniocentesis was performed at 18 weeks' gestation on a 27-year-old woman at a community hospital because of a high Down syndrome risk of 1/178, a low maternal serum alpha-fetoprotein (MSAFP) level of 0.66 multiples of the median (MoM), and a high maternal serum human chorionic gonadotrophin (MShCG) level of 3.13 MoM.
  • Postnatally, the infant manifested characteristic features of Gorlin syndrome.
  • The karyotype of the proband was 46,XY,del(9)(q22.3q31.3)de novo.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Chromosome Banding. Chromosome Deletion. Chromosomes, Human, Pair 9 / genetics
  • [MeSH-minor] Adult. Amniocentesis. Chorionic Gonadotropin / blood. Female. Genetic Markers. Humans. In Situ Hybridization, Fluorescence. Infant, Newborn. Male. Pregnancy. Receptors, Cell Surface / deficiency. Receptors, Cell Surface / genetics. alpha-Fetoproteins / analysis

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  • (PMID = 16927391.001).
  • [ISSN] 0197-3851
  • [Journal-full-title] Prenatal diagnosis
  • [ISO-abbreviation] Prenat. Diagn.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Chorionic Gonadotropin; 0 / Genetic Markers; 0 / Receptors, Cell Surface; 0 / alpha-Fetoproteins; 0 / patched receptors
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36. Bhattacharjee P, Leffell D, McNiff JM: Primary cutaneous carcinosarcoma arising in a patient with nevoid basal cell carcinoma syndrome. J Cutan Pathol; 2005 Oct;32(9):638-41
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  • [Title] Primary cutaneous carcinosarcoma arising in a patient with nevoid basal cell carcinoma syndrome.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant disorder characterized by developmental abnormalities and neoplasms including basal cell carcinoma (BCC) and sarcomas (i.e. leiomyosarcoma, rhabdomyosarcoma, and fibrosarcoma).
  • Primary cutaneous carcinosarcoma (PCC), a rare tumor composed of malignant epithelial and mesenchymal components, has never been previously described in association with this syndrome.
  • CASE REPORT: A 61-year-old Hispanic man with a history of NBCC presented with a 4 cm nodule on the right proximal medial thigh.
  • PATHOLOGIC FINDINGS: Areas of typical BCC merged with intersecting fascicles of large atypical spindle cells that stained for vimentin and were negative for actin, desmin, CD-34, and S-100 protein.
  • CONCLUSIONS: Several carcinosarcomas have been reported to contain BCC as the malignant epithelial component, but to our knowledge, this is the first report of PCC associated with NBCC.
  • Mutation in patched tumor suppressor gene on chromosome 9q occurs in BCCs of NBCC, and aberrancies on chromosome 9q are also reported in some carcinosarcomas.
  • Primary cutaneous carcinosarcoma arising in a patient with nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinosarcoma / pathology. Neoplasms, Multiple Primary / pathology. Skin Neoplasms / pathology

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  • (PMID = 16176303.001).
  • [ISSN] 0303-6987
  • [Journal-full-title] Journal of cutaneous pathology
  • [ISO-abbreviation] J. Cutan. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
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37. 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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38. 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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39. 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


40. Wallin JL, Tanna N, Misra S, Puri PK, Sadeghi N: Sinonasal carcinoma after irradiation for medulloblastoma in nevoid basal cell carcinoma syndrome. Am J Otolaryngol; 2007 Sep-Oct;28(5):360-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Sinonasal carcinoma after irradiation for medulloblastoma in nevoid basal cell carcinoma syndrome.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is associated with multiple basal cell carcinomas, odontogenic cysts, craniofacial anomalies, and childhood medulloblastomas.
  • METHODS: We present a 19-year-old man with NBCCS who presented with a sinonasal carcinoma 17 years after receiving craniospinal irradiation for treatment of medulloblastoma.
  • RESULTS: To our knowledge, this is the first report of a sinonasal tumor after irradiation in a patient with NBCCS.
  • CONCLUSIONS: With this case, the authors examine the genotype of NBCCS patients and their propensity for radiation-induced tumors.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Neoplasms, Radiation-Induced / surgery. Paranasal Sinus Neoplasms / etiology. Paranasal Sinus Neoplasms / surgery. Radiotherapy / adverse effects


41. Alessi SS, Sanches JA, Oliveira WR, Messina MC, Pimentel ER, Festa Neto C: Treatment of cutaneous tumors with topical 5% imiquimod cream. Clinics (Sao Paulo); 2009;64(10):961-6
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  • [Title] Treatment of cutaneous tumors with topical 5% imiquimod cream.
  • INTRODUCTION: There are various approaches to the treatment of cutaneous tumors; one of them is treatment with imiquimod, a synthetic toll-like receptor agonist with a low molecular weight that offers a topical, noninvasive, and non-surgical therapeutic option.
  • The main objective of our study was to provide data on 89 patients who used a 5% imiquimod cream for the treatment of cutaneous tumors at the Cutaneous Oncology Group of the Dermatology Department of Hospital das Clinicas from 2003 to 2008.
  • MATERIALS AND METHODS: Here, we present our experience in the treatment of 123 cutaneous tumors of various types, including basal cell carcinoma (BCC), squamous cell carcinoma (SCC), Bowen's disease, erythroplasia of Queyrat, Paget's disease, and trichoepithelioma, with 5% imiquimod cream from 2003 to 2008 in the Cutaneous Oncology Group of the Dermatology Department of Hospital das Clinicas.
  • Patients were divided into two separate groups according to their diagnosis and comorbidities; these comorbidities included epidermodysplasia verruciformis, xeroderma pigmentosum, albinism, basal cell nevus syndrome, Brooke-Spiegler syndrome, HIV, chronic lymphocytic leukemia, B-cell lymphoma, and kidney transplantation.
  • Tumors were located mainly on the face, back, trunk, and legs.
  • These specific patients demonstrated cure rates of 83.5% for superficial BCC and 50% for Bowen's disease.
  • Aggressive BCC and superficial and nodular BCC did not present a good response to treatment.
  • Trichoepitheliomas and nodular BCC showed a partial response, and erythroplasia of Queyrat showed a complete response.
  • For these patients, the cure rates were 85.7% for superficial and nodular BCC, 88% for superficial BCC, 57% for Bowen's disease, 50% for nodular BCC, and 50% for aggressive BCC.
  • One SCC lesion demonstrated a complete response, and tumors caused by Paget's disease and erythroplasia of Queyrat presented a partial response.
  • None of the tumors considered as clinically cured recurred.
  • Having a cutaneous comorbidity, high-risk tumors such as mixed aggressive BCC (sclerodermiform or micronodular), nodular BCC, or Bowen's disease, and presenting no local reaction to imiquimod were considered as risk factors for a worse prognosis.
  • CONCLUSIONS: Our experience confirms imiquimod as an effective treatment option for several types of cutaneous tumors, especially in patients without the cutaneous comorbidities cited above and with low-risk tumors.

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  • (PMID = 19841702.001).
  • [ISSN] 1980-5322
  • [Journal-full-title] Clinics (São Paulo, Brazil)
  • [ISO-abbreviation] Clinics (Sao Paulo)
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Brazil
  • [Chemical-registry-number] 0 / Adjuvants, Immunologic; 0 / Aminoquinolines; 0 / Antineoplastic Agents; 99011-02-6 / imiquimod
  • [Other-IDs] NLM/ PMC2763070
  • [Keywords] NOTNLM ; Basal cell carcinoma / Imiquimod / Immunomodulator / Immunotherapy / Non-melanoma skin cancer
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42. Habibi A, Jafarzadeh H: Nevoid basal cell carcinoma syndrome: a 17-year study of 19 cases in Iranian population (1991-2008). J Oral Pathol Med; 2010 Oct;39(9):677-80
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  • [Title] Nevoid basal cell carcinoma syndrome: a 17-year study of 19 cases in Iranian population (1991-2008).
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary autosomal dominant disorder with a wide range of clinical signs and symptoms.
  • The major criteria are more than two basal cell carcinoma, keratocystic odontogenic tumor, three or more palmar pits, and calcification of the falx cerebri, spine and rib anomalies, and a family history of the syndrome.
  • METHODS: This study reports 19 cases in an Iranian population and presents this rare syndrome as a differential diagnosis of skeletal anomalies.
  • Between 1991 and 2008, the demographic, clinical, radiologic and histologic data of 19 patients with NBCCS were analyzed.
  • RESULTS: The average age at the time of diagnosis of NBCCS was 35.12 years.
  • The major criteria with the most frequency were the keratocysts odontogenic tumor (19 patients), and the average number was 6.2.
  • Basal cell carcinoma (8 patients), and the average number was 14.7 calcification of the falx cerebri (17 patients), palmo-plantar pits (14 patients), mild hypertelorism (10 patients), and bilateral cleft lip and palate (1 patient).
  • Only one patient was affected with an unusual case of NBCCS in a 30-year-old man with an associated squamous cell carcinoma of the maxillary sinus.
  • This case is one of a large family including 14 NBCCS-affected patients.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology
  • [MeSH-minor] Adolescent. Adult. Aged, 80 and over. Calcinosis / pathology. Child. Diagnosis, Differential. Dura Mater / pathology. Female. Humans. Iran. Longitudinal Studies. Male. Middle Aged. Odontogenic Tumors / pathology. Young Adult

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  • [Copyright] © 2010 John Wiley & Sons A/S.
  • (PMID = 20456618.001).
  • [ISSN] 1600-0714
  • [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
  • [Publication-country] Denmark
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43. 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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44. Fleming F, Sheahan K, Winter D: Concomitant ulcerative colitis and rectal cancer in a patient with Gorlin syndrome. Inflamm Bowel Dis; 2009 Apr;15(4):488-9
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  • [Title] Concomitant ulcerative colitis and rectal cancer in a patient with Gorlin syndrome.
  • [MeSH-major] Adenocarcinoma / complications. Basal Cell Nevus Syndrome / complications. Colitis, Ulcerative / complications. Rectal Neoplasms / complications


45. 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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46. Moffatt CR, Green AC, Whiteman DC: Diagnostic accuracy in skin cancer clinics: the Australian experience. Int J Dermatol; 2006 Jun;45(6):656-60
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  • These clinics are becoming increasingly popular destinations for the diagnosis and treatment of skin cancers, yet little is known about the diagnostic performance of practitioners in this setting.
  • We sought to measure the accuracy of clinical diagnosis in this setting.
  • RESULTS: Of 287 biopsied or excised lesions, the most common were benign nevi (24%) and basal cell carcinomas (22%), followed by actinic keratoses (11%), dysplastic nevi (11%) and squamous cell carcinomas (7%).
  • Sensitivity was highest for diagnosing BCC (0.89, 95%CI 0.78-0.95) and dysplastic nevi (0.80, 95%CI 0.61-0.93), and lowest for actinic keratoses and the group of benign lesions.
  • Specificity was greater than 0.93 for all diagnoses except BCC (0.76, 95%CI 0.70-0.81).
  • Treating clinicians perceived moderate to strong pressure to excise 49% of lesions overall, but in particular for benign nevi (73%).
  • Benign nevi are accurately diagnosed and often excised because of patient pressure.
  • [MeSH-minor] Australia / epidemiology. Biopsy. Carcinoma, Basal Cell / pathology. Carcinoma, Basal Cell / surgery. Dysplastic Nevus Syndrome / pathology. Dysplastic Nevus Syndrome / surgery. Humans. Incidence. Nevus / pathology. Nevus / surgery. Reproducibility of Results. Sensitivity and Specificity. Treatment Outcome

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  • (PMID = 16796621.001).
  • [ISSN] 0011-9059
  • [Journal-full-title] International journal of dermatology
  • [ISO-abbreviation] Int. J. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article; Multicenter Study
  • [Publication-country] United States
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47. 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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48. 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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49. 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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  • (PMID = 20062724.001).
  • [ISSN] 1757-1626
  • [Journal-full-title] Cases journal
  • [ISO-abbreviation] Cases J
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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50. 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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51. King R, Page RN, Googe PB, Mihm MC Jr: Lentiginous melanoma: a histologic pattern of melanoma to be distinguished from lentiginous nevus. Mod Pathol; 2005 Oct;18(10):1397-401
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  • [Title] Lentiginous melanoma: a histologic pattern of melanoma to be distinguished from lentiginous nevus.
  • Atypical lentiginous melanocytic proliferations in elderly patients continue to pose a diagnostic dilemma with lesions variably categorized as dysplastic nevus, atypical junctional nevus, melanoma in situ (early or evolving) and premalignant melanosis.
  • The clinical diagnosis was variable and included lentigo maligna, atypical nevus, pigmented basal cell carcinoma, seborrheic keratosis and lentigo.
  • The initial biopsies mimicked lentiginous nevus or dysplastic nevus and were characterized by a lentiginous proliferation of melanocytes at the dermoepidermal junction both as single cells and as small nests with areas of confluent growth, extending to the edges of the biopsy.
  • The diagnosis of melanoma was more easily recognized in the complete excision specimens.
  • [MeSH-major] Dysplastic Nevus Syndrome / diagnosis. Hutchinson's Melanotic Freckle / diagnosis. Lentigo / diagnosis. Melanoma / diagnosis. Nevus, Pigmented / diagnosis. Skin Neoplasms / diagnosis
  • [MeSH-minor] Adult. Aged. Aged, 80 and over. Carcinoma, Basal Cell / diagnosis. Carcinoma, Basal Cell / pathology. Diagnosis, Differential. Female. Humans. Immunohistochemistry. Male. Middle Aged

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  • (PMID = 15976811.001).
  • [ISSN] 0893-3952
  • [Journal-full-title] Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
  • [ISO-abbreviation] Mod. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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52. 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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53. Reifenberger J: [Basal cell carcinoma. Molecular genetics and unusual clinical features]. Hautarzt; 2007 May;58(5):406-11
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  • [Title] [Basal cell carcinoma. Molecular genetics and unusual clinical features].
  • [Transliterated title] Basalzellkarzinom. Molekulare Genetik und ungewöhnliche klinische Manifestationen.
  • Basal cell carcinoma is the most common human cancer.
  • The development of basal cell carcinoma is linked to genetic factors, including the individual skin phototype, as well as the cumulative exposure to UVB.
  • The vast majority of basal cell carcinomas are sporadic tumors, while familial cases associated with certain hereditary syndromes are less common.
  • At the molecular level, basal cell carcinomas are characterized by aberrant activation of sonic hedgehog signaling, usually due to mutations either in the ptch or smoh genes.
  • Clinically, basal cell carcinomas may show a high degree of phenotypical variability.
  • In particular, tumors occurring in atypical locations, showing an unusual clinical appearance, or imitating other skin diseases may cause diagnostic problems.
  • This review article summarizes the current state of the art concerning the etiology, predisposition and molecular genetics of basal cell carcinoma.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / genetics. Cell Transformation, Neoplastic / genetics. Neoplasms, Radiation-Induced / genetics. Skin Neoplasms / genetics. Ultraviolet Rays / adverse effects
  • [MeSH-minor] Animals. DNA Mutational Analysis. Genetic Predisposition to Disease / genetics. Genotype. Hedgehog Proteins / genetics. Humans. Mice. Risk Factors. Skin / pathology

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  • (PMID = 17440702.001).
  • [ISSN] 0017-8470
  • [Journal-full-title] Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
  • [ISO-abbreviation] Hautarzt
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / SHH protein, human
  • [Number-of-references] 34
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54. 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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55. 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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  • [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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56. Pastorino L, Cusano R, Baldo C, Forzano F, Nasti S, Di Rocco M, Carta M, Bricarelli FD, Faravelli F, Scarrà GB: Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis. Child Care Health Dev; 2005 May;31(3):351-4
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  • [Title] Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.
  • BACKGROUND: Diagnosis of Nevoid Basal Cell Carcinoma Syndrome (NBCCS) in infants may pose significant challenges to clinicians owing to its variable expressivity and age-related manifestations.
  • METHODS: We report two paediatric cases of NBCCS who presented initially with a non-specific phenotype.
  • RESULTS: In case 1, a diagnosis of NBCCS was possible only after the father was interviewed and found to present with two major criteria for the disease.
  • Subsequent molecular testing confirmed the diagnosis.
  • In case 2, molecular testing of the infant and his father had diagnostic value as neither satisfied fully the current diagnostic criteria for NBCCS.
  • CONCLUSIONS: Presence of the few clinical manifestations of NBCCS that appear in infants, typically congenital malformations and skeletal abnormalities, should prompt clinicians to conduct in-person interviews with both parents.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis

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  • (PMID = 15840155.001).
  • [ISSN] 0305-1862
  • [Journal-full-title] Child: care, health and development
  • [ISO-abbreviation] Child Care Health Dev
  • [Language] eng
  • [Grant] Italy / Telethon / / GTF04003
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Codon, Nonsense
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57. 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


58. 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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59. 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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  • [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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60. 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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61. 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


62. Efron PA, Chen MK, Glavin FL, Kays DW, Beierle EA: Pediatric basal cell carcinoma: case reports and literature review. J Pediatr Surg; 2008 Dec;43(12):2277-80
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  • [Title] Pediatric basal cell carcinoma: case reports and literature review.
  • Basal cell carcinoma (BCC) is a rare disease in the pediatric population that usually presents in children with predisposing genetic conditions.
  • Increased knowledge of BCC by pediatric caregivers would expedite definitive therapy for childhood BCC as well as any necessary evaluation by subspecialists for predisposing syndromes.
  • We report 3 cases of BCC in pediatric patients and review the literature concerning BCC in children.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Carcinoma, Basal Cell / diagnosis. Nose Neoplasms / diagnosis. Skin Neoplasms / diagnosis
  • [MeSH-minor] Adolescent. Age Factors. Biomarkers, Tumor. Child. Child, Preschool. Diagnosis, Differential. Female. Hernia, Inguinal / complications. Hernia, Inguinal / surgery. Humans. Incidental Findings. Male. Neoplasms, Basal Cell / diagnosis. Neoplasms, Radiation-Induced / diagnosis. Neoplasms, Radiation-Induced / pathology. Neoplasms, Radiation-Induced / surgery. Reoperation. Risk Factors

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  • (PMID = 19040953.001).
  • [ISSN] 1531-5037
  • [Journal-full-title] Journal of pediatric surgery
  • [ISO-abbreviation] J. Pediatr. Surg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
  • [Number-of-references] 18
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63. Dos Santos JN, Oliveira GQ, Gurgel CA, de Souza RO, Sales CB, de Aguiar Pires Valença Neto A, Ramos EA: Altered expression of cytokeratins in primary, recurrent and syndrome keratocystic odontogenic tumors. J Mol Histol; 2009 Aug;40(4):269-75
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  • [Title] Altered expression of cytokeratins in primary, recurrent and syndrome keratocystic odontogenic tumors.
  • Keratocystic odontogenic tumor (KOT) is a benign cystic tumor that affects the jaw bones and may be associated with the nevoid basal cell carcinoma syndrome (NBCCS).
  • Twenty-five cases diagnosed as KOT, including primary and recurrent tumors and those associated with NBCCS, were submitted to immunohistochemical study for analysis of cytokeratins (CKs) 7, 8, 10, 13, 14, 18 and 19.
  • CK14 was expressed in all epithelial layers and in those areas where inflammation and subepithelial splits were present; this protein was preserved within the basal cells.
  • CK 18 was expressed mainly in the basal layer, whereas CK19 was expressed mainly on the intermediate and superficial layers.
  • The status of maturation of cytokeratin seems to be altered on KOTs, and this is not distinct when different tumors are compared.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Jaw Neoplasms / pathology. Keratins / biosynthesis. Neoplasm Recurrence, Local / pathology. Odontogenic Cysts / pathology

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  • (PMID = 19915949.001).
  • [ISSN] 1567-2387
  • [Journal-full-title] Journal of molecular histology
  • [ISO-abbreviation] J. Mol. Histol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 68238-35-7 / Keratins
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64. 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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65. Schweiger ES, Kwasniak L, Tonkovic-Capin V: A patient with neviod basal cell carcinoma syndrome treated successfully with photodynamic therapy: case report and review of the literature. J Drugs Dermatol; 2010 Feb;9(2):167-8
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  • [Title] A patient with neviod basal cell carcinoma syndrome treated successfully with photodynamic therapy: case report and review of the literature.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is a genetic disorder characterized by multiple basal cell carcinomas (BCCs) in addition to skeletal abnormalities and other neoplasms.
  • The authors report a case of a patient with NBCCS treated successfully with photodynamic therapy (PDT) using 20% 5-aminolevulinc acid and blue light.
  • The authors also review the literature and summarize past case reports and series using PDT to treat patient with NBCCS.
  • Based on their experience and the reports of others, the authors assert that PDT should become the first-line therapy in the treatment of multiple BCCs in patients with NBCCS.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Photochemotherapy. Skin Neoplasms / drug therapy

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  • (PMID = 20214182.001).
  • [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; Review
  • [Publication-country] United States
  • [Number-of-references] 11
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66. R Yang X, Pfeiffer RM, Goldstein AM: Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome. J Med Genet; 2006 Apr;43(4):e16
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  • [Title] Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome.
  • BACKGROUND: The naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant multisystem disorder with variable expression.
  • NBCCS patients have variable susceptibility to development of basal cell carcinoma (BCC).
  • Previous studies have shown that polymorphisms of some metabolic genes encoding the cytochrome p450 (CYP) and glutathione-S-transferase (GST) enzymes influenced the numbers of BCCs in sporadic BCC cases.
  • OBJECTIVE: To determine whether allelic variants of these genes contribute to the variation in numbers of BCCs observed in NBCCS families.
  • METHODS: Genotyping and analysis was carried out in 152 members (69 affected and 83 unaffected) of 13 families with NBCCS for seven polymorphisms in five metabolic genes including CYP1A1, CYP2D6, GSTM1, GSTP1, and GSTT1.
  • RESULTS: GSTP1 Val105 and GSTP1 Val114 alleles were significantly associated with fewer BCC numbers (odds ratio (OR)105 = 0.55 (95% confidence interval, 0.35 to 0.88); OR114 = 0.20 (0.05 to 0.88)).
  • In addition, fewer jaw cysts were observed in carriers of the three p450 polymorphisms (CYP1A1m1, CYP1A1m2, and CYP2D6*4) (OR(CYP1A1m1) = 0.27 (0.12 to 0.58); OR(CYP1A1m2) = 0.25 (0.08 to 0.78); OR(CYP2D6*4) = 0.33 (0.18 to 0.60)).
  • CONCLUSIONS: Genetic variants might contribute to the variation in numbers of BCCs and jaw cysts observed in NBCCS families.

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  • (PMID = 16582078.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] ENG
  • [Grant] United States / Intramural NIH HHS / /
  • [Publication-type] Letter; Research Support, N.I.H., Intramural
  • [Publication-country] England
  • [Chemical-registry-number] EC 1.14.14.1 / Cytochrome P-450 CYP1A1; EC 1.14.14.1 / Cytochrome P-450 CYP2D6; EC 2.5.1.- / glutathione S-transferase T1; EC 2.5.1.18 / GSTP1 protein, human; EC 2.5.1.18 / Glutathione S-Transferase pi; EC 2.5.1.18 / Glutathione Transferase; EC 2.5.1.18 / glutathione S-transferase M1
  • [Other-IDs] NLM/ PMC2563218
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67. Leonardi R, Licciardello V, Santarelli A, Ciavarella D, Bolouri S, Härle F, Caltabiano M, Lo Muzio L: Nevoid Basal cell carcinoma syndrome: a cephalometric study of patients and controls. J Craniofac Surg; 2009 Jan;20(1):203-8
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  • [Title] Nevoid Basal cell carcinoma syndrome: a cephalometric study of patients and controls.
  • Craniofacial morphology of patients with nevoid basal cell carcinoma syndrome (NBCCS) has sometimes been reported at clinical examination, but any investigation has described it on the basis of cephalometric measurements.The purpose of this study was to conduct a cephalometric analysis of patients with NBCCS and to compare measurements with non-NBCCS subjects of similar ages, to elucidate if there is any relationship between NBCCS and craniofacial morphology.The study population consisted of 14 adult patients (9 men and 5 women), ranging in age from 18.2 to 56.8 years, with the diagnosis of NBCCS, with good-quality lateral cephalometric radiographs, and 14 adult healthy patients matched for age and sex to the NBCCS group.
  • Cephalometric measurements were carried out on radiographs, and measurements of angles and distances were performed.Statistical differences between NBCCS subjects and controls were observed.
  • Data analysis displayed that the measurements of the anterior cranial base (P <or= 0.0043), mandibular length (P <or= 0.0168), and maxillary length (P <or= 0.0284), posterior facial height (P <or= 0.0406), and of mandibular angle (P <or= 0.0026), facial axis angle (P <or= 0.0402), lower facial height angles (P <or= 0.0135), and of interincisal angulation (P <or= 0.0148) were higher in NBCCS subjects in respect to controls.
  • On the contrary, the facial convexity (P <or= 0.0189) and the mandibular arc angle (P <or= 0.0378) were reduced in NBCCS subjects.According to these findings, NBCCS patients presented a sagittal lengthening of the anterior cranial base and maxilla and a vertically and horizontally overdeveloped mandible, together with the features of a long-face syndrome with a large gonial angle.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Cephalometry / methods. Face. Facial Bones / pathology. Skull / pathology

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  • (PMID = 19165028.001).
  • [ISSN] 1536-3732
  • [Journal-full-title] The Journal of craniofacial surgery
  • [ISO-abbreviation] J Craniofac Surg
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
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68. 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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69. 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


70. Campbell RM, Mader RD, Dufresne RG Jr: Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome. J Am Acad Dermatol; 2005 Nov;53(5 Suppl 1):S256-9
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  • [Title] Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome.
  • A 23-year-old woman with basal cell nevus syndrome (BCNS), or Gorlin's syndrome, was given the diagnosis at age 2 years of a medulloblastoma that was resected and treated postoperatively with craniospinal irradiation.
  • Multiple basal cell carcinomas developed at the craniospinal irradiation port site 8 years later.
  • She subsequently developed multiple meningiomas within the area of irradiation at age 20 years.
  • This case reviews early presentation of BCNS, newly described differences between medulloblastomas in patients with BCNS and nonsyndromic medulloblastomas, and global assessment of patients by the treating dermatologist of this patient population.
  • This is the first report in the dermatologic literature, to our knowledge, of radiation-induced meningiomas in a patient with BCNS.
  • [MeSH-major] Basal Cell Nevus Syndrome / epidemiology. Cerebellar Neoplasms / radiotherapy. Medulloblastoma / radiotherapy. Meningeal Neoplasms / epidemiology. Meningioma / epidemiology

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  • (PMID = 16227103.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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71. Sugaya S, Nakanishi H, Tanzawa H, Sugita K, Kita K, Suzuki N: Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells. Mutat Res; 2005 Oct 15;578(1-2):327-32
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells.
  • Fibroblast cells derived from nevoid basal carcinoma syndrome (NBCCS) patients show increased levels of DNA synthesis after X-ray irradiation.
  • Genes, whose expression is modulated in association with the DNA synthesis induction, were searched by using PCR-based mRNA differential display analysis in one of the NBCCS cell lines, NBCCS1 cells.
  • This decrease was also shown by RT-PCR analysis in another cell line, NBCCS3 cells.
  • In addition to NBCCS cells, normal fibroblast cells showed the DNA synthesis induction after X-ray irradiation when they were treated with antisense oligonucleotides (AO) for SMT3A.
  • Thus, down-regulation of SMT3A gene expression may be involved in the DNA synthesis induction after X-ray irradiation in the NBCCS cells at least tested.
  • [MeSH-major] Basal Cell Nevus Syndrome / metabolism. DNA, Neoplasm / biosynthesis. Down-Regulation / radiation effects. Gene Expression Regulation, Neoplastic / radiation effects. Ubiquitins / metabolism. X-Rays
  • [MeSH-minor] Cell Line, Tumor. Ethidium / metabolism. Fibroblasts / metabolism. Fibroblasts / radiation effects. Flow Cytometry. Humans. Kinetics. Oligonucleotides, Antisense / pharmacology. RNA, Messenger / analysis. Reverse Transcriptase Polymerase Chain Reaction. Sequence Analysis, DNA. Transcription, Genetic


72. Martínez-Menchón T, Mahiques Santos L, Vilata Corell JJ, Febrer Bosch I, Fortea Baixauli JM: Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. Pediatr Dermatol; 2005 Jan-Feb;22(1):44-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components.
  • Phacomatosis pigmentokeratotica is a rare syndrome defined by the association of an organoid nevus occasionally with sebaceous differentiation, a speckled lentiginous nevus, and other extracutaneous anomalies.
  • The disorder is a consequence of the so-called twin spot genetic mechanism.
  • We describe the first occurrence involving malignant degeneration of both nevus components, giving rise to three basal cell carcinomas over the sebaceous nevus and a malignant melanoma of the superficial spreading type over the speckled lentiginous nevus.
  • [MeSH-major] Carcinoma, Basal Cell / physiopathology. Neurocutaneous Syndromes / physiopathology. Nevus, Pigmented / physiopathology. Skin Neoplasms / physiopathology
  • [MeSH-minor] Adult. Cell Transformation, Neoplastic. Disease Progression. Follow-Up Studies. Humans. Male. Melanoma / complications. Melanoma / physiopathology


73. 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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74. Abe S, Kabashima K, Sakabe J, Shimauchi T, Yan Z, Okamoto T, Tokura Y: Coincident two mutations and one single nucleotide polymorphism of the PTCH1 gene in a family with naevoid basal cell carcinoma syndrome. Acta Derm Venereol; 2008;88(6):635-6
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  • [Title] Coincident two mutations and one single nucleotide polymorphism of the PTCH1 gene in a family with naevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation. Polymorphism, Single Nucleotide. Receptors, Cell Surface / genetics

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  • (PMID = 19002359.001).
  • [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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75. Giuliani M, Di Stefano L, Zoccali G, Angelone E, Leocata P, Mascaretti G: Gorlin syndrome associated with basal cell carcinoma of the vulva: A case report. Eur J Gynaecol Oncol; 2006;27(5):519-22
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  • [Title] Gorlin syndrome associated with basal cell carcinoma of the vulva: A case report.
  • Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a hereditary condition transmitted as an autosomal dominant trait with high penetrance and variable expressivity.
  • The syndrome is characterized by numerous manifestations: basal cell carcinomas (BCCs) and odontogenic keratocysts (OKCs) are the leading ones.
  • In this article a typical Gorlin syndrome case associated with basal cell carcinoma of the vulva is described.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Vulvar Neoplasms / complications

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  • (PMID = 17139991.001).
  • [ISSN] 0392-2936
  • [Journal-full-title] European journal of gynaecological oncology
  • [ISO-abbreviation] Eur. J. Gynaecol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Italy
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76. Longobardi G, Diana G, Poddi V, Pagano I: Follicular cyst of the jaw developing into a keratocyst in a patient with unrecognized Gorlin-Goltz syndrome. J Craniofac Surg; 2010 May;21(3):833-6
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  • [Title] Follicular cyst of the jaw developing into a keratocyst in a patient with unrecognized Gorlin-Goltz syndrome.
  • Gorlin-Goltz (GG) syndrome is an inherited autosomal dominant condition.
  • Its diagnosis may be clinically confirmed by checking either major or minor signs that define the diagnostic criteria.
  • It may occur that, although GG syndrome is a well-known condition, only the specific symptom could be observed by different specialists.
  • Throughout a 20-year clinical history characterized by the lack of proper diagnosis and missed follow-up operations, a patient with GG syndrome underwent partial amputation of the jaw after severe complications.
  • A 52-year-old man required an implant-prosthetic rehabilitation since becoming edentulous after a partial resection of the jaw due to a keratocyst, which was later reconstructed through a free fibula flap.
  • The observation of a typical phenotype and various symptoms that succeeded for longer than 20 years, with anamnestic evaluation and clinical examination, led us to suspect a complex pathologic condition such as GG syndrome, which was not previously considered, although the patient had undergone several polyspecialistic evaluations.
  • Diagnosis has been eventually confirmed by a genetic study, which was always mandatory.
  • The simultaneous presence of muscular and skeletal malformations, basocellular nevi, and multiple cysts of the jaw can represent signs linking to a condition such as GG syndrome.
  • There are many syndromes involving the head and neck region, and specialists are supposed to be alerted when faced with similar typical expressions associated with a characteristic soma so as to avoid delays in diagnosing the syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Follicular Cyst / pathology. Follicular Cyst / surgery. Jaw Cysts / pathology. Jaw Cysts / surgery. Mandible / pathology. Mandible / surgery. Odontogenic Cysts / pathology. Odontogenic Cysts / surgery
  • [MeSH-minor] Amputation. Diagnosis, Differential. Fibula / transplantation. Humans. Male. Middle Aged. Reconstructive Surgical Procedures. Surgical Flaps

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  • [CommentIn] J Craniofac Surg. 2011 May;22(3):1170 [21586983.001]
  • (PMID = 20485063.001).
  • [ISSN] 1536-3732
  • [Journal-full-title] The Journal of craniofacial surgery
  • [ISO-abbreviation] J Craniofac Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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77. Kos S, Feil B, Radü EW: [Gorlin-Goltz syndrome: manifestations in an elderly patient]. Praxis (Bern 1994); 2007 Oct 31;96(44):1736-8
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  • [Title] [Gorlin-Goltz syndrome: manifestations in an elderly patient].
  • [Transliterated title] Das Gorlin-Goltz-syndrom: Aspekte im Senium.
  • Gorlin-Goltz syndrome is a rare inherited genodermatosis with an autosomal dominant trait.
  • We hereby present a case of a 69 year old patient with known Gorlin-Goltz syndrome to emphasize the peculiar syndrome manifestations in the elderly.
  • [MeSH-major] Basal Cell Nevus Syndrome / radiography. Dyspnea / etiology. Image Processing, Computer-Assisted. Imaging, Three-Dimensional. Pulmonary Disease, Chronic Obstructive / radiography. Ribs / abnormalities. Scoliosis / radiography. Tomography, X-Ray Computed


78. Foschini MP, Cocchi R, Marucci G, Pennesi MG, Magrini E, Ligorio C, Lombardini F, Tosi AL, Marchetti C: High DeltaN p63 isoform expression favours recurrences in odontogenic keratocyst--odontogenic keratocystic tumour. Int J Oral Maxillofac Surg; 2006 Jul;35(7):673-5
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  • [Title] High DeltaN p63 isoform expression favours recurrences in odontogenic keratocyst--odontogenic keratocystic tumour.
  • [MeSH-major] Odontogenic Cysts / metabolism
  • [MeSH-minor] Adolescent. Adult. Aged. Basal Cell Nevus Syndrome / metabolism. DNA-Binding Proteins / analysis. DNA-Binding Proteins / biosynthesis. Female. Humans. Immunohistochemistry. Keratins. Male. Middle Aged. Receptors, Opioid, delta. Recurrence. Trans-Activators / analysis. Trans-Activators / biosynthesis. Transcription Factors. Tumor Suppressor Proteins / analysis. Tumor Suppressor Proteins / biosynthesis

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  • [CommentOn] Int J Oral Maxillofac Surg. 2005 Sep;34(6):668-73 [16053892.001]
  • (PMID = 16687239.001).
  • [ISSN] 0901-5027
  • [Journal-full-title] International journal of oral and maxillofacial surgery
  • [ISO-abbreviation] Int J Oral Maxillofac Surg
  • [Language] eng
  • [Publication-type] Comment; Letter
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / DNA-Binding Proteins; 0 / Receptors, Opioid, delta; 0 / TP63 protein, human; 0 / Trans-Activators; 0 / Transcription Factors; 0 / Tumor Suppressor Proteins; 68238-35-7 / Keratins
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79. High A, Zedan W: Basal cell nevus syndrome. Curr Opin Oncol; 2005 Mar;17(2):160-6
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  • [Title] Basal cell nevus syndrome.
  • PURPOSE OF REVIEW: Basal cell nevus syndrome (BCNS), is a hereditary condition transmitted as an autosomal dominant trait exhibiting high penetrance and variable expressivity.
  • Inherited or spontaneous mutations in the human homologue of the Drosophila patched gene underlie the disorder and in addition to tumor predisposition, are associated with a range of 'patterning' defects.
  • Recent advances, with glimpses of possible therapies are emerging, but because of the wide-ranging nature of phenotypic expression and overlap with other syndromes, there is difficulty.
  • RECENT FINDINGS: Progress has been achieved in understanding the role of Gli-1, 2, & 3 in development of 'sporadic' BCCs and BCNS.
  • SUMMARY: In BCNS, phenotype does not correlate with position of mutations within Patched, suggesting genetic makeup and environment modulate effects of premature protein truncation induced by PTCH mutation.
  • [MeSH-major] Basal Cell Nevus Syndrome / etiology. Skin Neoplasms / etiology

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  • (PMID = 15725922.001).
  • [ISSN] 1040-8746
  • [Journal-full-title] Current opinion in oncology
  • [ISO-abbreviation] Curr Opin Oncol
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Membrane Proteins
  • [Number-of-references] 59
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80. Fogarty GB, McKay MJ: Multiple malignancies and immunological diseases after radiotherapy: a new tumour suppressor gene disorder? Clin Oncol (R Coll Radiol); 2005 Dec;17(8):668
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  • [Title] Multiple malignancies and immunological diseases after radiotherapy: a new tumour suppressor gene disorder?
  • [MeSH-major] Genes, Tumor Suppressor. Immune System Diseases / etiology. Mutation. Neoplasms, Multiple Primary / etiology. Radiotherapy / adverse effects
  • [MeSH-minor] Adolescent. Adult. Basal Cell Nevus Syndrome / genetics. Humans. Male. Patched Receptors. Receptors, Cell Surface / genetics

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  • (PMID = 16372504.001).
  • [ISSN] 0936-6555
  • [Journal-full-title] Clinical oncology (Royal College of Radiologists (Great Britain))
  • [ISO-abbreviation] Clin Oncol (R Coll Radiol)
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Patched Receptors; 0 / Receptors, Cell Surface
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81. Zhou SH, Li LL, Jian XC, Jiang CH: [A case of nevoid basal cell carcinoma syndrome family]. Hua Xi Kou Qiang Yi Xue Za Zhi; 2008 Feb;26(1):109-11
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  • [Title] [A case of nevoid basal cell carcinoma syndrome family].
  • Nevoid basal cell carcinoma syndrome is a rare autosomal dominant genetic disorder characterized by developmental abnormalities and tumorigenesis.
  • In this paper, a case of nevoid basal cell carcinoma syndrome family was reported, and its incidence, pathogenesis, clinical features and methods of treatment were discussed by reviewing relevant literatures.
  • [MeSH-major] Basal Cell Nevus Syndrome

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  • (PMID = 18357899.001).
  • [ISSN] 1000-1182
  • [Journal-full-title] Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology
  • [ISO-abbreviation] Hua Xi Kou Qiang Yi Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] China
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82. 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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  • [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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83. 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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84. 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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  • [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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85. Epstein EH: Basal cell carcinomas: attack of the hedgehog. Nat Rev Cancer; 2008 Oct;8(10):743-54
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  • [Title] Basal cell carcinomas: attack of the hedgehog.
  • Basal cell carcinomas (BCCs) were essentially a molecular 'black box' until some 12 years ago, when identification of a genetic flaw in a rare subset of patients who have a great propensity to develop BCCs pointed to aberrant Hedgehog signalling as the pivotal defect leading to formation of these tumours.
  • This discovery has facilitated a remarkable increase in our understanding of BCC carcinogenesis and has highlighted the carcinogenic role of this developmental pathway when aberrantly activated in adulthood.

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  • (PMID = 18813320.001).
  • [ISSN] 1474-1768
  • [Journal-full-title] Nature reviews. Cancer
  • [ISO-abbreviation] Nat. Rev. Cancer
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA109584-06; United States / NCI NIH HHS / CA / R01 CA115992; United States / NCI NIH HHS / CA / R01 CA109584; United States / NCI NIH HHS / CA / CA115992; United States / NIAMS NIH HHS / AR / AR050440; United States / NIAMS NIH HHS / AR / P01 AR050440
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Antineoplastic Agents; 0 / Hedgehog Proteins; 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Number-of-references] 199
  • [Other-IDs] NLM/ NIHMS354845; NLM/ PMC4457317
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86. 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
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87. Evans DG, Birch JM, Ramsden RT, Sharif S, Baser ME: Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes. J Med Genet; 2006 Apr;43(4):289-94
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  • [Title] Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes.
  • While short term follow up in patients with isolated tumours suggests this treatment is safe, there are particular concerns regarding its use in childhood and in tumour predisposing syndromes.
  • [MeSH-major] Cell Transformation, Neoplastic. Neoplasms / radiotherapy. Neoplasms, Radiation-Induced / epidemiology
  • [MeSH-minor] Basal Cell Nevus Syndrome / radiotherapy. Humans. Li-Fraumeni Syndrome / radiotherapy. Neurofibromatoses / radiotherapy. Radiotherapy / adverse effects. Retinoblastoma / radiotherapy. Risk Factors. Syndrome. von Hippel-Lindau Disease / radiotherapy

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  • (PMID = 16155191.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 80
  • [Other-IDs] NLM/ PMC2563223
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88. Marín Romero O, Hernández Marín I, Ayala Ruiz AR: [Hypogonadism caused by Gorlin-Goltz syndrome]. Ginecol Obstet Mex; 2006 Sep;74(9):493-8
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  • [Title] [Hypogonadism caused by Gorlin-Goltz syndrome].
  • [Transliterated title] Hipogonadismo causado por el síndrome de Gorlin-Goltz.
  • The Gorlin-Goltz syndrome is a dominant autosomic disorder characterized by cancerigenic predisposition and multiple development defects, apparently without reproductive compromise.
  • The complex is characterized by four primary symptoms, which include nevoid basal cell epitheliomas malignantly prone, keratocystic jaw, skeletal abnormalities and intracranial calcifications.
  • Apparently, reproductive problems reported had been rarely associated with this syndrome.
  • We present the case of a patient with clinic stigmatae of Gorlin-Goltz syndrome, who had a characteristic progress as seen in the literature; he was the fifth product of a 43 year-old female (father was 48 years old); who at birth disclosed right eye microftalmy, bilateral cryptorchidism surgically treated at age of six.
  • At puberty, an odontogenic cyst of the jaw was noted and enucleated.
  • He also showed facial nevi in neck, thorax and abdomen.
  • It is important to take into consideration Gorlin-Goltz stigmatae in cases of hypogonadism in order to recognize a further genetic influence.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Hypogonadism / etiology

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  • (PMID = 17133965.001).
  • [ISSN] 0300-9041
  • [Journal-full-title] Ginecología y obstetricia de México
  • [ISO-abbreviation] Ginecol Obstet Mex
  • [Language] spa
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Mexico
  • [Chemical-registry-number] 3XMK78S47O / Testosterone
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89. Rao S, Arulselvi S, Gupta K, Arora R, Shrivastava D: Nevoid basal cell carcinoma syndrome (Gorlin's syndrome): a case report. Indian J Pathol Microbiol; 2006 Oct;49(4):578-80
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  • [Title] Nevoid basal cell carcinoma syndrome (Gorlin's syndrome): a case report.
  • A case of nevoid basal cell carcinoma syndrome is presented and its varied clinical manifestations and multi-system involvement are emphasised.
  • Our case presented with an early onset of symptoms but sought medical help later on for progressively increasing jaw swelling and pain.
  • On further evaluation, multiple pigmented skin papules, palmar pits, multiple jaw cysts, skull bone osteoporosis, bifid ribs and kyphosis were present.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology
  • [MeSH-minor] Adolescent. Humans. Jaw Cysts / pathology. Male. Skin Neoplasms / pathology

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  • (PMID = 17183862.001).
  • [ISSN] 0377-4929
  • [Journal-full-title] Indian journal of pathology & microbiology
  • [ISO-abbreviation] Indian J Pathol Microbiol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] India
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90. 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


91. 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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92. 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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93. 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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94. Mitchell G, Farndon PA, Brayden P, Murday VA, Eeles RA: Genetic predisposition to cancer: the consequences of a delayed diagnosis of Gorlin syndrome. Clin Oncol (R Coll Radiol); 2005 Dec;17(8):650-4
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  • [Title] Genetic predisposition to cancer: the consequences of a delayed diagnosis of Gorlin syndrome.
  • This report outlines a case of Gorlin syndrome, the diagnosis of which was delayed for many years, and raises a number of important issues.
  • These are the spectrum of late radiotherapy effects, particularly after treatment for benign disease, and the importance of considering the possibility of the presence of a genetic syndrome predisposing to cancer in all individuals before starting any treatment.
  • As our knowledge of genetic syndromes expands, this will become increasingly important.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Genetic Predisposition to Disease

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  • (PMID = 16372493.001).
  • [ISSN] 0936-6555
  • [Journal-full-title] Clinical oncology (Royal College of Radiologists (Great Britain))
  • [ISO-abbreviation] Clin Oncol (R Coll Radiol)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
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95. Hussein MR, Elsers DA, Fadel SA, Omar AE: Clinicopathological features of melanocytic skin lesions in Egypt. Eur J Cancer Prev; 2006 Feb;15(1):64-8
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  • CMMs included two of 21(9%), three of 21(14%), six of 21(38%), and 10 of 21(38%) with Clark level II, III, IV and V.
  • In Egypt, CMM is the third most common cutaneous neoplasm following squamous and basal cell carcinomas.
  • [MeSH-major] Dysplastic Nevus Syndrome / pathology. Melanoma / pathology. Nevus, Pigmented / pathology. Skin Neoplasms / pathology

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  • (PMID = 16374232.001).
  • [ISSN] 0959-8278
  • [Journal-full-title] European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP)
  • [ISO-abbreviation] Eur. J. Cancer Prev.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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96. 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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  • [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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97. 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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98. 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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99. Yung A, Newton-Bishop JA: A case of Bazex-Dupré-Christol syndrome associated with multiple genital trichoepitheliomas. Br J Dermatol; 2005 Sep;153(3):682-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A case of Bazex-Dupré-Christol syndrome associated with multiple genital trichoepitheliomas.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Hidradenitis Suppurativa / pathology. Hypotrichosis / pathology. Neoplasms, Multiple Primary / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Child, Preschool. Female. Genitalia, Female. Humans. Pedigree. Syndrome


100. 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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  • 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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