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1. Taylor SF, Cook AE, Leatherbarrow B: Review of patients with basal cell nevus syndrome. Ophthal Plast Reconstr Surg; 2006 Jul-Aug;22(4):259-65
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  • [Title] Review of patients with basal cell nevus syndrome.
  • PURPOSE: To review patients with basal cell nevus syndrome (BCNS), documenting presentation, referrals, treatment patterns, and associated morbidity.
  • METHODS: Cross-sectional review and retrospective data collection of 39 patients with BCNS.
  • Patients from the BCNS support group were invited to be examined.
  • Demographic data, age at presentation, age at diagnosis, spectrum of ophthalmic and periocular disease, treatment modalities used, and periocular deformities developed were reviewed.
  • Presenting clinical features included odontogenic keratocyst in 17 patients and basal cell carcinoma in 13 patients; less common presentations were with congenital malformations (n = 2), with ophthalmic associations (n = 3), and at genetic counseling (n = 4).
  • Seventeen of the 39 patients confirmed a parental diagnosis of BCNS.
  • Basal cell carcinoma developed in 18 of the 28 patients before the age of 30, confirming the reported early age of onset.
  • Periocular basal cell carcinoma was reported in 24 of 39 patients (61%), with recurrent disease reported in 17 of these 24 (71%), despite a variety of treatment modalities used.
  • Associated ophthalmic features were multiple eyelid cysts (15 patients), strabismus (9 patients), myopia (5 patients), hyperopia (7 patients), cataracts (5 patients), myelinated nerve fibers (3 patients), amblyopia (3 patients), and nystagmus and iris transillumination defects (2 patients each).
  • CONCLUSIONS: Patients with BCNS frequently have ophthalmic manifestations, particularly periocular basal cell carcinoma.
  • Multidisciplinary care is essential in the care of the patient with BCNS.
  • Early diagnosis of BCNS may allow for skin protection and surveillance at an earlier age.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology
  • [MeSH-minor] Adolescent. Adult. Aged. Carcinoma, Basal Cell / pathology. Child. Child, Preschool. Cross-Sectional Studies. Eye Diseases / diagnosis. Eyelid Neoplasms / pathology. Female. Genetic Counseling. Humans. Male. Middle Aged. Retrospective Studies

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  • (PMID = 16855496.001).
  • [ISSN] 0740-9303
  • [Journal-full-title] Ophthalmic plastic and reconstructive surgery
  • [ISO-abbreviation] Ophthal Plast Reconstr Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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2. Matsuzawa N, Nagao T, Shimozato K, Niikawa N, Yoshiura KI: Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. J Clin Pathol; 2006 Oct;59(10):1084-6
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  • [Title] Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.
  • AIM: To search for patched homologue 1 (PTCH1) mutations in four families with basal cell nevus syndrome (BCNS).
  • METHODS: Mutation analysis of PTCH1 in unrelated Japanese families affected with BCNS was carried out by direct sequencing.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation. Receptors, Cell Surface / genetics

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  • (PMID = 17021131.001).
  • [ISSN] 0021-9746
  • [Journal-full-title] Journal of clinical pathology
  • [ISO-abbreviation] J. Clin. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Other-IDs] NLM/ PMC1861741
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3. Ujifuku K, Matsuo T, Takeshita T, Hayashi Y, Hayashi K, Kitagawa N, Hayashi T, Suyama K, Nagata I: Malignant transformation of craniopharyngioma associated with moyamoya syndrome. Neurol Med Chir (Tokyo); 2010;50(7):599-603
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  • [Title] Malignant transformation of craniopharyngioma associated with moyamoya syndrome.
  • A 32-year-old man presented with malignant craniopharyngioma associated with moyamoya syndrome manifesting as right visual disturbance.
  • MR imaging demonstrated tumor regrowth and bilateral occlusions of the internal carotid arteries (ICAs) with basal moyamoya phenomenon, which might have been induced by irradiation and/or tumor compression, 10 years after the initial manifestations.
  • Sufficient debulking was safely achieved via the transsphenoidal route and histological examination revealed squamous cell carcinoma, indicating malignant transformation of craniopharyngioma.
  • Malignant transformation of craniopharyngioma may be included in moyamoya syndrome.
  • [MeSH-major] Carcinoma, Squamous Cell / pathology. Carcinoma, Squamous Cell / surgery. Cell Transformation, Neoplastic / pathology. Craniopharyngioma / pathology. Craniopharyngioma / surgery. Moyamoya Disease / pathology. Neoplasm Recurrence, Local / pathology. Neoplasm Recurrence, Local / surgery. Neoplasms, Radiation-Induced / pathology. Neoplasms, Second Primary / pathology. Neoplasms, Second Primary / surgery. Pituitary Neoplasms / pathology. Pituitary Neoplasms / surgery. Postoperative Complications / pathology. Postoperative Complications / surgery

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  • (PMID = 20671391.001).
  • [ISSN] 1349-8029
  • [Journal-full-title] Neurologia medico-chirurgica
  • [ISO-abbreviation] Neurol. Med. Chir. (Tokyo)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
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4. Cajaiba MM, Bale AE, Alvarez-Franco M, McNamara J, Reyes-Múgica M: Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome. Nat Clin Pract Oncol; 2006 Oct;3(10):575-80
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  • [Title] Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome.
  • DIAGNOSIS: Gorlin syndrome with synchronous rhabdomyosarcoma and Wilms tumor.
  • MANAGEMENT: Left nephrectomy, excision of paravesical tumor, excision of mandibular cysts, chemotherapy, and radiotherapy.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Kidney Neoplasms / surgery. Rhabdomyosarcoma / surgery. Wilms Tumor / surgery
  • [MeSH-minor] Bone Cysts / complications. Child, Preschool. Female. Humans. Macroglossia / etiology. Mandible. Receptors, Cell Surface / genetics

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  • (PMID = 17019435.001).
  • [ISSN] 1743-4262
  • [Journal-full-title] Nature clinical practice. Oncology
  • [ISO-abbreviation] Nat Clin Pract Oncol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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5. Vered M, Peleg O, Taicher S, Buchner A: The immunoprofile of odontogenic keratocyst (keratocystic odontogenic tumor) that includes expression of PTCH, SMO, GLI-1 and bcl-2 is similar to ameloblastoma but different from odontogenic cysts. J Oral Pathol Med; 2009 Aug;38(7):597-604
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The immunoprofile of odontogenic keratocyst (keratocystic odontogenic tumor) that includes expression of PTCH, SMO, GLI-1 and bcl-2 is similar to ameloblastoma but different from odontogenic cysts.
  • BACKGROUND: The aggressive biological behavior of odontogenic keratocysts (OKCs), unlike that of other odontogenic cysts, has argued for its recent re-classification as a neoplasm, 'keratocystic odontogenic tumor'.
  • Identification of mutations in the PTCH gene in some of the OKCs that were expected to produce truncated proteins, resulting in loss of control of the cell cycle, provided additional support for OKCs having a neoplastic nature.
  • METHODS: We investigated the immunohistochemical expression of the sonic hedgehog (SHH) signaling pathway-related proteins, PTCH, smoothened (SMO) and GLI-1, and of the SHH-induced bcl-2 oncoprotein in a series of primary OKC (pOKC), recurrent OKC (rOKC) and nevoid basal cell carcinoma syndrome-associated OKCs (NBCCS-OKCs), and compared them to solid ameloblastomas (SAMs), unicystic ameloblastomas (UAMs), 'orthokeratinized' OKCs (oOKCs), dentigerous cysts (DCs) and radicular cysts (RCs).
  • The expression of bcl-2 in OKCs (pOKCs and NBCCS-OKCs) and SAMs was significantly higher than in oOKCs, DCs and RCs (P < 0.001).
  • As OKCs vary considerably in their biologic behavior, it is suggested that the quality and quantity of interactions between the SHH and other cell cycle regulatory pathways are likely to work synergistically to define the individual phenotype and corresponding biological behavior of this lesion.
  • [MeSH-major] Hedgehog Proteins / metabolism. Jaw Neoplasms / metabolism. Odontogenic Cysts / metabolism. Receptors, Cell Surface / metabolism. Receptors, G-Protein-Coupled / metabolism. Transcription Factors / metabolism
  • [MeSH-minor] Ameloblastoma / immunology. Ameloblastoma / metabolism. Ameloblastoma / pathology. Analysis of Variance. Basal Cell Nevus Syndrome / immunology. Basal Cell Nevus Syndrome / metabolism. Basal Cell Nevus Syndrome / pathology. Case-Control Studies. Gene Expression Regulation, Neoplastic / physiology. Humans. Immunohistochemistry. Jaw Diseases / immunology. Jaw Diseases / metabolism. Jaw Diseases / pathology. Proto-Oncogene Proteins c-bcl-2 / genetics. Proto-Oncogene Proteins c-bcl-2 / metabolism. Reference Values. Second Messenger Systems / physiology. Signal Transduction / physiology

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  • (PMID = 19473442.001).
  • [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] Comparative Study; Journal Article
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / GLI1 protein, human; 0 / Hedgehog Proteins; 0 / Proto-Oncogene Proteins c-bcl-2; 0 / Receptors, Cell Surface; 0 / Receptors, G-Protein-Coupled; 0 / SMO protein, human; 0 / Transcription Factors; 0 / patched receptors
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6. Zemtsov A: Association between basal, squamous cell carcinomas, dysplastic nevi and myotonic muscular dystrophy indicates an important role of RNA-binding proteins in development of human skin cancer. Arch Dermatol Res; 2010 Apr;302(3):169-70
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  • [Title] Association between basal, squamous cell carcinomas, dysplastic nevi and myotonic muscular dystrophy indicates an important role of RNA-binding proteins in development of human skin cancer.
  • A case of a patient, with MMD multiple basal and squamous cell carcinomas and dysplastic nevi, is described.
  • [MeSH-major] Carcinoma, Basal Cell / genetics. Carcinoma, Squamous Cell / genetics. Cell Transformation, Neoplastic / genetics. Dysplastic Nevus Syndrome / genetics. Myotonic Dystrophy / genetics. RNA-Binding Proteins / genetics. Skin Neoplasms / genetics
  • [MeSH-minor] Adult. DNA Damage. DNA Repair. Gene Expression Regulation, Neoplastic. Genetic Predisposition to Disease. Humans. Male. Risk Factors

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  • (PMID = 19902230.001).
  • [ISSN] 1432-069X
  • [Journal-full-title] Archives of dermatological research
  • [ISO-abbreviation] Arch. Dermatol. Res.
  • [Language] eng
  • [Publication-type] Case Reports; News
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / RNA-Binding Proteins
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7. 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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8. Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garrè ML, Clementi M, Scarrà GB: Identification of a SUFU germline mutation in a family with Gorlin syndrome. Am J Med Genet A; 2009 Jul;149A(7):1539-43
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  • [Title] Identification of a SUFU germline mutation in a family with Gorlin syndrome.
  • Gorlin syndrome (GS) is inherited in an autosomal dominant pattern with high-penetrance and is characterized by a range of developmental anomalies and increased risk of developing basal cell carcinoma and medulloblastoma.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Germ-Line Mutation. Repressor Proteins / genetics
  • [MeSH-minor] Adult. Base Sequence. Child, Preschool. Family. Female. Humans. Patched Receptors. Patched-1 Receptor. Receptors, Cell Surface / genetics


9. Xie WH, Ren GX, Li SJ, Zhang J, Huang W, Guo W: [Genetic linkage analysis and mutation detection in Chinese families with basal cell nevus syndrome]. Zhonghua Kou Qiang Yi Xue Za Zhi; 2006 Oct;41(10):596-8
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  • [Title] [Genetic linkage analysis and mutation detection in Chinese families with basal cell nevus syndrome].
  • OBJECTIVE: To study the molecular genetic etiology of a Chinese pedigree with basal cell nevus syndrome.
  • CONCLUSIONS: In this pedigree, mutation of PTCH gene is not related to the underlying pathogenesis of the syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Genetic Linkage. Receptors, Cell Surface / genetics

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  • (PMID = 17129446.001).
  • [ISSN] 1002-0098
  • [Journal-full-title] Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
  • [ISO-abbreviation] Zhonghua Kou Qiang Yi Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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10. McPherson T, Ogg G: Spontaneous resolution of basal cell carcinoma in naevoid basal cell carcinoma syndrome/Gorlin's syndrome. Clin Exp Dermatol; 2009 Dec;34(8):e884-5
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  • [Title] Spontaneous resolution of basal cell carcinoma in naevoid basal cell carcinoma syndrome/Gorlin's syndrome.
  • We describe a 10-year-old patient with naevoid basal cell carcinoma syndrome (NBCCS) which was diagnosed when she was 3 years old.
  • She has developed multiple basal cell carcinomas (BCCs) over this time, in particular on her face and trunk.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Skin Neoplasms / pathology

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  • (PMID = 20055856.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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11. Kansal A, Brueton L, Lahiri A, Lester R: Hypoplastic thumb in Gorlin's syndrome. J Plast Reconstr Aesthet Surg; 2007;60(4):440-2
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  • [Title] Hypoplastic thumb in Gorlin's syndrome.
  • Gorlin's syndrome or naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and medulloblastomas.
  • Gorlin's syndrome is characterized by the development of multiple jaw keratocysts and/or basal carcinomas.
  • Most individuals have skeletal anomalies such as bifid ribs or wedge-shaped vertebrae.
  • Various hand deformities have been reported in patients with Gorlin's syndrome including short metacarpals, cutaneous syndactyly of the second and third fingers, and pre- or post-axial polydactyly, but hypoplasia of the thumb has not been reported previously.
  • These features of Gorlin's syndrome may be helpful diagnostically.
  • The thumbs should be examined carefully in Gorlin's syndrome patients as minor degrees of hypoplasia are easy to miss.
  • [MeSH-major] Basal Cell Nevus Syndrome. Thumb / abnormalities
  • [MeSH-minor] Humans. Infant. Male. Polydactyly / diagnosis. Treatment Outcome

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  • (PMID = 17349603.001).
  • [ISSN] 1748-6815
  • [Journal-full-title] Journal of plastic, reconstructive & aesthetic surgery : JPRAS
  • [ISO-abbreviation] J Plast Reconstr Aesthet Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Netherlands
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12. 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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13. Nowakowska B, Kutkowska-Kaźmierczak A, Stankiewicz P, Bocian E, Obersztyn E, Ou Z, Cheung SW, Cai WW: A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. Am J Med Genet A; 2007 Aug 15;143A(16):1885-9
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  • Here, we present a 12-year-old girl with features of basal cell nevus syndrome (BCNS), pulmonary valve stenosis, and MR, in whom array-CGH identified a 7.7 Mb deletion on 9q22.1-q22.32.
  • Haploinsufficiency of PTCH causes the BCNS syndrome and mutations in ROR2 have been found in an autosomal recessive Robinow syndrome and a dominantly inherited brachydactyly type 1B.
  • Because of an age-dependent penetrance, BCNS may be challenging for diagnosis particularly when the features are not part of a typical clinical spectrum of BCNS.
  • Early diagnosis of BCNS is important for preventing the development of associated tumors and better care of the patient.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Chromosome Deletion. Chromosomes, Human, Pair 9. Intellectual Disability / genetics. Receptors, Cell Surface / genetics
  • [MeSH-minor] Abnormalities, Multiple / diagnosis. Abnormalities, Multiple / genetics. Child. Chromosomes, Artificial, Bacterial. Facies. Female. Genome, Human. Humans. In Situ Hybridization, Fluorescence. Oligonucleotide Array Sequence Analysis / methods. Receptor Tyrosine Kinase-like Orphan Receptors

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  • [Copyright] (c) 2007 Wiley-Liss, Inc.
  • (PMID = 17632781.001).
  • [ISSN] 1552-4825
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] eng
  • [Grant] United States / NICHD NIH HHS / HD / HD24064
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / ROR2 protein, human; 0 / Receptors, Cell Surface; 0 / patched receptors; EC 2.7.10.1 / Receptor Tyrosine Kinase-like Orphan Receptors
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14. Hayes D Jr: Obstructive sleep apnea in a patient with basal cell nevus syndrome. J Ky Med Assoc; 2006 Jul;104(7):291-2
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  • [Title] Obstructive sleep apnea in a patient with basal cell nevus syndrome.
  • A 20-year-old male with basal cell nevus syndrome (also known as Gorlin-Goltz Syndrome) was evaluated for snoring, daytime hypersomnolence, and poorly controlled hypertension.
  • Nocturnal polysomnography confirmed obstructive sleep apnea syndrome with correction of symptoms with nasal bilevel positive pressure ventilation.
  • Assessment for sleep disordered breathing is imperative in ongoing care for patients with this disorder.
  • [MeSH-major] Basal Cell Nevus Syndrome. Sleep Apnea, Obstructive / diagnosis

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

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  • (PMID = 19221557.001).
  • [ISSN] 1671-167X
  • [Journal-full-title] Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
  • [ISO-abbreviation] Beijing Da Xue Xue Bao
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / Receptors, G-Protein-Coupled; 0 / SMO protein, human; 0 / patched receptors
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17. 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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18. Stinco G, Governatori G, Mattighello P, Patrone P: Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. J Dermatol; 2008 Mar;35(3):154-61
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  • [Title] Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review.
  • Rothmund-Thomson syndrome (RTS) is a rare genodermatosis characterized by early poikilodermatous skin lesions, often combined with juvenile cataracts, photosensitivity and bone defects.
  • Data in the published work indicate that there is an increased risk of RTS patients developing malignant tumors.
  • Herein, we report the multiple skin carcinomas observed in a case of RTS and review the published work on the occurrence of malignant tumors in these patients.
  • We report the case of a 63-year-old male with RTS who developed multiple cutaneous neoplasms (three basal cell carcinomas, three squamous cell carcinomas and Bowen's disease) over the previous 15 years.
  • A published work review confirmed that RTS is a genetic condition that predisposes subjects to the development of bone tumors, especially at an early age, and skin tumors at an adult age.
  • Therefore, alongside careful osteoarticular monitoring to identify a bone tumor quickly, during the life of a patient suffering from the syndrome, it is just as important to take appropriate preventive action and monitor the possible onset of skin tumors.
  • [MeSH-major] Carcinoma / etiology. Rothmund-Thomson Syndrome / complications. Skin Neoplasms / etiology

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  • (PMID = 18346259.001).
  • [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] 67
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19. Gambichler T, Hoffjan S, Altmeyer P, Bechara FG: A case of sporadic Bazex-Dupré-Christol syndrome presenting with scarring folliculitis of the scalp. Br J Dermatol; 2007 Jan;156(1):184-6
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  • [Title] A case of sporadic Bazex-Dupré-Christol syndrome presenting with scarring folliculitis of the scalp.
  • [MeSH-major] Carcinoma, Basal Cell / pathology. Cicatrix / pathology. Hair Diseases / pathology. Hypotrichosis / pathology. Scalp Dermatoses / pathology
  • [MeSH-minor] Adult. Female. Humans. Syndrome


20. Habibi A, Jafarzadeh H: Squamous cell carcinoma of the maxillary sinus associated with nevoid basal cell carcinoma syndrome: report of a case with 21-year evaluation. J Oral Maxillofac Surg; 2010 Aug;68(8):1982-6
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  • [Title] Squamous cell carcinoma of the maxillary sinus associated with nevoid basal cell carcinoma syndrome: report of a case with 21-year evaluation.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Carcinoma, Squamous Cell / complications. Maxillary Sinus Neoplasms / complications
  • [MeSH-minor] Child. Humans. Male. Maxillary Neoplasms / complications. Maxillary Neoplasms / pathology. Maxillary Neoplasms / radiography. Odontogenic Tumors / complications. Odontogenic Tumors / pathology. Odontogenic Tumors / radiography. Tomography, X-Ray Computed

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  • (PMID = 20452113.001).
  • [ISSN] 1531-5053
  • [Journal-full-title] Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
  • [ISO-abbreviation] J. Oral Maxillofac. Surg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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21. Scheper MA, Nikitakis NG, Sarlani E, Sauk JJ, Meiller TF: Cowden syndrome: report of a case with immunohistochemical analysis and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2006 May;101(5):625-31
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  • [Title] Cowden syndrome: report of a case with immunohistochemical analysis and review of the literature.
  • Cowden syndrome is a rare condition defined by multiple hamartomatous growths and a guarded prognosis owing to the high risk of cancer development.
  • The syndrome is inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
  • The PTEN/MMAC1/TEP1 tumor suppressor gene on chromosome 10q23.3, has proven to contain a germline mutation predisposing for uncontrolled cell growth and survival via the PI3K/AKT pathway.
  • Presented here is a case of Cowden syndrome in a patient with multiple hamartomas of the nose, midfacial skin and oral mucosa, and fissured tongue; plus a history of bipolar disease, iron deficiency anemia, basal cell carcinoma, fibroids of the uterus, and arthritis.
  • A final diagnosis of Cowden syndrome was made on the basis of established criteria and confirmed using immunohistochemistry directed against PTEN and phosphorylated-AKT.
  • [MeSH-major] Hamartoma Syndrome, Multiple / pathology. Mouth Mucosa / pathology. Skin Diseases / pathology. Tongue Diseases / pathology

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  • (PMID = 16632275.001).
  • [ISSN] 1528-395X
  • [Journal-full-title] Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
  • [ISO-abbreviation] Oral Surg Oral Med Oral Pathol Oral Radiol Endod
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anti-Inflammatory Agents, Non-Steroidal; EC 2.7.11.1 / Proto-Oncogene Proteins c-akt; EC 3.1.3.48 / PTEN protein, human; EC 3.1.3.67 / PTEN Phosphohydrolase
  • [Number-of-references] 41
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22. Belliveau MJ, Coupal DJ, Brownstein S, Jordan DR, Prokopetz R: Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome. Ophthal Plast Reconstr Surg; 2010 May-Jun;26(3):147-52
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  • [Title] Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome.
  • PURPOSE: To describe the histopathologic findings in a series of eyelid basal cell carcinomas removed from patients with basal cell nevus syndrome.
  • METHODS: Retrospective case series of 5 patients with basal cell nevus syndrome identified from our oculoplastics service.
  • The pertinent published literature on basal cell nevus syndrome and eyelid basal cell carcinoma was reviewed.
  • Twenty-three of these lesions were basal cell carcinomas.
  • The infundibulocystic variant of basal cell carcinoma was identified most commonly (57%).
  • CONCLUSIONS: Eyelid basal cell carcinomas in patients with basal cell nevus syndrome were commonly of the infundibulocystic variety in our series.
  • Infundibulocystic basal cell carcinomas, which can be clinically indistinguishable from the more common forms, are thought to be less aggressive than other types of basal cell carcinoma and are a reassuring histopathologic diagnosis.
  • It is important for the ophthalmologist and pathologist to be aware of infundibulocystic basal cell carcinomas, as they are more common in patients with basal cell nevus syndrome and may be a clue to the diagnosis of this autosomal dominant cancer-predisposition syndrome or other associated syndromes.
  • To our knowledge, this variant of basal cell carcinoma has not been previously discussed in the ophthalmic literature.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Eyelid Neoplasms / pathology. Neoplasms, Multiple Primary / pathology. Skin Neoplasms / pathology


23. Jacyk WK, Rütten A, Requena L: Fibrous papule of the face with granular cells. Dermatology; 2008;216(1):56-9
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  • It presents usually as a single small, firm, skin-coloured papule and is often misdiagnosed as melanocytic naevus, wart or small nodular basal cell carcinoma.
  • Uncommon histopathologic variants of fibrous papule of the face include hypercellular, clear-cell, pleomorphic, pigmented, inflammatory and granular-cell types.
  • We present here a patient with the syndrome of familial cancer and fibrous papule of the face with granular cells.
  • In our patient the mutations in the 2 most often affected DNA mismatch repair genes of Muir-Torre syndrome were not found, therefore the origin of the familial cancer syndrome remains unknown.
  • Probably the occurrence of the granular-cell fibrous papule of the face was coincidental.

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  • [Copyright] (c) 2008 S. Karger AG, Basel.
  • [CommentIn] Dermatology. 2008;217(1):56-7; author reply 57 [18382105.001]
  • (PMID = 18032900.001).
  • [ISSN] 1421-9832
  • [Journal-full-title] Dermatology (Basel, Switzerland)
  • [ISO-abbreviation] Dermatology (Basel)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Switzerland
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24. 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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25. 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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26. Burgdorf WH: Cancer-associated genodermatoses: a personal history. Exp Dermatol; 2006 Sep;15(9):653-66
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  • The historical, clinical and dermatopathological aspects of basal cell nevus syndrome, Muir-Torre syndrome, Cowden syndrome, Carney complex and Birt-Hogg-Dubé syndrome are reviewed in a personal and informal fashion.
  • [MeSH-major] Neoplastic Syndromes, Hereditary / diagnosis. Skin Diseases, Genetic / diagnosis
  • [MeSH-minor] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / physiopathology. Hamartoma Syndrome, Multiple / diagnosis. Hamartoma Syndrome, Multiple / physiopathology. Humans. Skin / pathology

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

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  • (PMID = 19472747.001).
  • [ISSN] 0041-4131
  • [Journal-full-title] La Tunisie médicale
  • [ISO-abbreviation] Tunis Med
  • [Language] fre
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Tunisia
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28. 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


29. Mentzel T, Kutzner H, Requena L, Hartmann A: [Skin tumors as marker lesions for tumor syndromes]. Pathologe; 2010 Oct;31(6):489-96
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  • [Title] [Skin tumors as marker lesions for tumor syndromes].
  • A number of hereditary tumor syndromes are associated with characteristic dermal neoplasms and knowledge and early diagnosis of these lesions may facilitate the diagnostic of the underlying syndrome.
  • These syndromes include Muir-Torre syndrome, associated with cystic sebaceomas, Cowden syndrome, associated with multiple tricholemmomas, Carney complex associated with multiple superficial angiomyxomas, Birt-Hogg-Dubé syndrome associated with multiple fibrofolliculomas, tuberous sclerosis associated with multiple facial angiofibromas and so-called Koenen tumors, patients with renal cell cancer associated with pilar leiomyomatosis and uterine leiomyomas, Gardner syndrome associated with Gardner fibromas and nevoid basal cell carcinoma associated with multiple basal cell carcinomas in young patients.
  • [MeSH-minor] Angiofibroma / pathology. Basal Cell Nevus Syndrome / pathology. Birt-Hogg-Dube Syndrome / pathology. Carcinoma, Basal Cell / pathology. Epidermis / pathology. Hamartoma Syndrome, Multiple / pathology. Humans. Kidney Neoplasms / pathology. Leiomyoma / pathology. Male. Muir-Torre Syndrome / pathology. Myxoma / pathology. Syndrome

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  • [Cites] Am J Dermatopathol. 1999 Oct;21(5):405-13 [10535567.001]
  • [Cites] J Cutan Pathol. 2005 Jul;32(6):424-8 [15953376.001]
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  • (PMID = 20960199.001).
  • [ISSN] 1432-1963
  • [Journal-full-title] Der Pathologe
  • [ISO-abbreviation] Pathologe
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
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30. Loncaster J, Swindell R, Slevin F, Sheridan L, Allan D, Allan E: Efficacy of photodynamic therapy as a treatment for Gorlin syndrome-related basal cell carcinomas. Clin Oncol (R Coll Radiol); 2009 Aug;21(6):502-8
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  • [Title] Efficacy of photodynamic therapy as a treatment for Gorlin syndrome-related basal cell carcinomas.
  • AIMS: The management of the multiple basal cell carcinomas (BCCs) that develop throughout life of patients with Gorlin syndrome can be challenging.
  • It is now routinely used to treat superficial sporadic BCCs, using a topically-applied photosensitiser and external light, but its role in the management of Gorlin syndrome-related BCCs has yet to be established.
  • In particular, Gorlin syndrome is often associated thick, nodular lesions which can be resistant to treatment with topical PDT.
  • MATERIALS AND METHODS: We report our outcome data for 33 Gorlin patients (138 lesions) treated with PDT.
  • PDT can be considered as a treatment option for patients with multiple BCCs as a result of Gorlin syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Photochemotherapy / methods. Skin Neoplasms / drug therapy

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  • (PMID = 19398312.001).
  • [ISSN] 1433-2981
  • [Journal-full-title] Clinical oncology (Royal College of Radiologists (Great Britain))
  • [ISO-abbreviation] Clin Oncol (R Coll Radiol)
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Photosensitizing Agents; 97067-70-4 / Dihematoporphyrin Ether
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31. 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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  • [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


32. Lee DA, Grossman ME, Schneiderman P, Celebi JT: Genetics of skin appendage neoplasms and related syndromes. J Med Genet; 2005 Nov;42(11):811-9
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  • [Title] Genetics of skin appendage neoplasms and related syndromes.
  • In the past decade the molecular basis of many inherited syndromes has been unravelled.
  • This article reviews the clinical and genetic aspects of inherited syndromes that are characterised by skin appendage neoplasms, including Cowden syndrome, Birt-Hogg-Dube syndrome, naevoid basal cell carcinoma syndrome, generalised basaloid follicular hamartoma syndrome, Bazex syndrome, Brooke-Spiegler syndrome, familial cylindromatosis, multiple familial trichoepitheliomas, and Muir-Torre syndrome.

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  • (PMID = 16272260.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] ENG
  • [Grant] United States / NIAMS NIH HHS / AR / K08 AR050273
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review
  • [Publication-country] England
  • [Number-of-references] 95
  • [Other-IDs] NLM/ PMC1735949
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33. Leonardi R, Matthews JB, Caltabiano R, Greco M, Lombardo C, Loreto C, Santarelli A, Lo Muzio L: MMP-13 expression in keratocyst odontogenic tumour associated with NBCCS and sporadic keratocysts. Oral Dis; 2010 Nov;16(8):795-800
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  • [Title] MMP-13 expression in keratocyst odontogenic tumour associated with NBCCS and sporadic keratocysts.
  • OBJECTIVE: To investigate the matrix metalloproteinase (MMP)-13 expression in associated and non-nevoid basal cell carcinoma syndrome (NBCCS) Odontogenic Keratocysts (OCKs) in order to contribute to a better understanding of the differences in the growth pattern between them.
  • MATERIALS AND METHODS: Thirty-nine paraffin-embedded blocks of OCKs, 26 sporadic OCKs and 11 NBCCS-associated KCOTs were studied by immunohistochemistry to evaluate MMP-13 expression both in epithelial and stromal layers.
  • Moreover, syndromic cysts displayed a more intense and diffuse MMP-13 labelling of the stromal tissue.
  • Fisher's exact test showed a statistically significant greater prevalence of KCOTs-immunolabelled cysts with respect to sporadic OCKs.
  • CONCLUSIONS: Results from this study point out that the biological behaviour of these cysts could be related not only to the epithelial layer but also to stromal tissue in that... MMP-13 overexpression in stromal tissue of NBCCS-associated KCOTs could clarify the higher aggressiveness of these cysts.
  • [MeSH-major] Carcinoma, Basal Cell / enzymology. Matrix Metalloproteinase 13 / analysis. Odontogenic Cysts / enzymology. Odontogenic Tumors / enzymology

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  • [Copyright] © 2010 John Wiley & Sons A/S.
  • (PMID = 20561220.001).
  • [ISSN] 1601-0825
  • [Journal-full-title] Oral diseases
  • [ISO-abbreviation] Oral Dis
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] Denmark
  • [Chemical-registry-number] EC 3.4.24.- / MMP13 protein, human; EC 3.4.24.- / Matrix Metalloproteinase 13
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34. 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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35. 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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36. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • 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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37. Kluger N, Marco-Baertich I, Guillot B: Late onset of cardiac tumour in naevoid Basal cell carcinoma (Gorlin) syndrome. Acta Derm Venereol; 2007;87(3):272-3
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  • [Title] Late onset of cardiac tumour in naevoid Basal cell carcinoma (Gorlin) syndrome.
  • [MeSH-minor] Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / genetics. Female. Frameshift Mutation. Humans. Magnetic Resonance Imaging, Cine. Middle Aged. Receptors, Cell Surface / genetics

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  • (PMID = 17533500.001).
  • [ISSN] 0001-5555
  • [Journal-full-title] Acta dermato-venereologica
  • [ISO-abbreviation] Acta Derm. Venereol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Sweden
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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38. Büyükpamukçu M, Varan A, Yazici N, Akalan N, Söylemezoğlu F, Zorlu F, Akyüz C, Kutluk MT: Second malignant neoplasms following the treatment of brain tumors in children. J Child Neurol; 2006 May;21(5):433-6
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  • [Title] Second malignant neoplasms following the treatment of brain tumors in children.
  • We investigated retrospectively 992 children with central nervous system tumors who were treated at our center between 1970 and 2004.
  • The second malignant neoplasms were diagnosed as non-Hodgkin lymphoma, myelodysplastic syndrome, basal cell carcinoma, malignant melanoma, Kaposi sarcoma, and high-grade neuroectodermal tumor.
  • The patients who developed non-Hodgkin lymphoma and myelodysplastic syndrome died of progressive disease.
  • A wide spectrum of second malignant neoplasms was detected after treatment of primary brain tumors with surgery, radiotherapy, and chemotherapy.

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  • (PMID = 16901454.001).
  • [ISSN] 0883-0738
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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39. Maoz KB, Dvash S, Brenner S, Brenner S: Amiodarone-induced skin pigmentation and multiple basal-cell carcinomas. Int J Dermatol; 2009 Dec;48(12):1398-400
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  • [Title] Amiodarone-induced skin pigmentation and multiple basal-cell carcinomas.
  • [MeSH-major] Amiodarone / adverse effects. Anti-Arrhythmia Agents / adverse effects. Carcinoma, Basal Cell / chemically induced. Neoplasms, Multiple Primary / chemically induced. Photosensitivity Disorders / chemically induced. Skin Neoplasms / chemically induced

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  • (PMID = 20415682.001).
  • [ISSN] 1365-4632
  • [Journal-full-title] International journal of dermatology
  • [ISO-abbreviation] Int. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anti-Arrhythmia Agents; N3RQ532IUT / Amiodarone
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40. 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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41. Campos-do-Carmo G, Ramos-e-Silva M: Dermoscopy: basic concepts. Int J Dermatol; 2008 Jul;47(7):712-9
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  • It represents a link between clinical and histological views, permitting an earlier diagnosis of skin melanoma.
  • It also helps in the diagnosis of many other pigmented skin lesions, such as seborrheic keratosis, pigmented basal cell carcinoma, hemangioma, blue nevus, atypical nevus, and mole, which can often clinically simulate melanoma.
  • [MeSH-major] Dermatology / instrumentation. Dermoscopy / methods. Melanoma / diagnosis. Nevus, Pigmented / diagnosis. Skin Neoplasms / diagnosis
  • [MeSH-minor] Diagnosis, Differential. Dysplastic Nevus Syndrome / diagnosis. Dysplastic Nevus Syndrome / pathology. Equipment Design. Equipment Safety. Humans. Precancerous Conditions / diagnosis. Sensitivity and Specificity

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  • (PMID = 18613881.001).
  • [ISSN] 1365-4632
  • [Journal-full-title] International journal of dermatology
  • [ISO-abbreviation] Int. J. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 22
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42. Smucker PS, Smith JL: Multifocal desmoplastic medulloblastoma in an african-american child with nevoid basal cell carcinoma (gorlin) syndrome. Case report. J Neurosurg; 2006 Oct;105(4 Suppl):315-20
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  • [Title] Multifocal desmoplastic medulloblastoma in an african-american child with nevoid basal cell carcinoma (gorlin) syndrome. Case report.
  • The authors present the case of a 2.5-year-old African-American boy with desmoplastic medulloblastoma (MB) and nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, an autosomal dominant disorder resulting from mutations in the patched (PTCH) gene that predisposes to neoplasias (including basal cell carcinomas [BCCs] and MB) and to widespread congenital malformations.
  • The diagnosis of NBCCS was suspected based on the clinical examination, patient and family medical histories, and histopathological characteristics of the tumor.
  • The diagnosis of NBCCS was confirmed by DNA testing, which revealed a novel mutation in the PTCH gene.
  • This is the first report of an African-American child with MB diagnosed with NBCCS prior to radiotherapy.
  • Although only a small number of patients with MB have NBCCS, the diagnosis must be considered because radiotherapy in such patients can lead to the formation of BCCs and other intracranial neoplasms within the irradiated field.
  • This case emphasizes the importance of obtaining thorough family and patient medical histories and of carefully examining the patient and close relatives for signs of NBCCS to avoid the potentially devastating consequences of missing this diagnosis.
  • [MeSH-major] African Americans. Basal Cell Nevus Syndrome / diagnosis. Brain Neoplasms / diagnosis. Cerebellar Neoplasms / diagnosis. Cerebral Ventricle Neoplasms / diagnosis. Medulloblastoma / diagnosis. Neoplasms, Multiple Primary / diagnosis
  • [MeSH-minor] Child, Preschool. Cranial Fossa, Posterior. Humans. Magnetic Resonance Imaging. Male. Mutation. Receptors, Cell Surface / genetics


43. Cabo H, Kolm I, Puig S, Malvehy J: Palmar basal cell carcinoma in a patient with Gorlin-Goltz syndrome. Arch Dermatol; 2007 Jun;143(6):813-4
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  • [Title] Palmar basal cell carcinoma in a patient with Gorlin-Goltz syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome. Carcinoma, Basal Cell / diagnosis. Skin Neoplasms / diagnosis
  • [MeSH-minor] Aged. Diagnosis, Differential. Female. Hand / pathology. Humans

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  • (PMID = 17576964.001).
  • [ISSN] 0003-987X
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / R0-1 CA 83115
  • [Publication-type] Case Reports; Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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44. Kandus A, Grego K, Arnol M, Kovac D, Lindic J, Buturović J, Ponikvar R, Bren AF: Effective immunoprophylaxis with basiliximab plus triple therapy in renal transplantation: five-year single-center experience. Transplant Proc; 2006 Nov;38(9):2853-5
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  • One carcinoma of cervix (in situ) and two basal cell carcinomas of skin were detected.
  • Hypersensitivity reactions and cytokine-release syndrome were not observed.

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  • (PMID = 17112847.001).
  • [ISSN] 0041-1345
  • [Journal-full-title] Transplantation proceedings
  • [ISO-abbreviation] Transplant. Proc.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antibodies, Monoclonal; 0 / Immunosuppressive Agents; 0 / Recombinant Fusion Proteins; 0 / basiliximab
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45. Kalogeropoulou C, Zampakis P, Kazantzi S, Kraniotis P, Mastronikolis NS: Gorlin-Goltz syndrome: incidental finding on routine ct scan following car accident. Cases J; 2009;2:9087
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  • [Title] Gorlin-Goltz syndrome: incidental finding on routine ct scan following car accident.
  • INTRODUCTION: Gorlin-Goltz syndrome is a rare hereditary disease.
  • Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene).
  • Multiple basal cell carcinomas (BCCs), odontogenic keratocysts, skeletal abnormalities, hyperkeratosis of palms and soles, intracranial ectopic calcifications of the falx cerebri and facial dysmorphism are considered the main clinical features.
  • Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by DNA analysis.
  • CASE PRESENTATION: We report the case of a 19 year-old female who was involved in a car accident and found to present imaging findings of Gorlin-Goltz syndrome during a routine whole body computed tomography (CT) scan in order to exclude traumatic injuries.
  • CONCLUSION: Radiologic findings of the syndrome are easily identifiable on CT scans and may prompt to early verification of the disease, which is very important for regular follow-up and better survival rates from the co-existent diseases.

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  • [Cites] N Engl J Med. 1960 May 5;262:908-12 [13851319.001]
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  • (PMID = 20062724.001).
  • [ISSN] 1757-1626
  • [Journal-full-title] Cases journal
  • [ISO-abbreviation] Cases J
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2803884
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46. Tiodorovic-Zivkovic D, Zalaudek I, Ferrara G, Giorgio CM, Di Nola K, Procaccini EM, Argenziano G: Clinical and dermatoscopic findings in Bazex-Dupré-Christol and Gorlin-Goltz syndromes. J Am Acad Dermatol; 2010 Oct;63(4):722-4
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  • [Title] Clinical and dermatoscopic findings in Bazex-Dupré-Christol and Gorlin-Goltz syndromes.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Focal Dermal Hypoplasia / pathology. Hypotrichosis / pathology. Skin / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Adolescent. Adult. Atrophy / pathology. Biopsy, Needle. Dermoscopy / methods. Female. Follow-Up Studies. Genetic Predisposition to Disease. Humans. Immunohistochemistry. Male. Pedigree. Rare Diseases. Syndrome

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  • (PMID = 20846576.001).
  • [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; Letter
  • [Publication-country] United States
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47. Uchañska G, Romañska-Gocka K, Placek W, Dajnowska A: Basal cell carcinoma arising within port-wine stain in Klippel-Trenaunay syndrome. J Eur Acad Dermatol Venereol; 2007 Oct;21(9):1261-2
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  • [Title] Basal cell carcinoma arising within port-wine stain in Klippel-Trenaunay syndrome.
  • [MeSH-major] Carcinoma, Basal Cell / complications. Klippel-Trenaunay-Weber Syndrome / complications. Port-Wine Stain / complications. Skin Neoplasms / complications
  • [MeSH-minor] Aged. Biopsy. Diagnosis, Differential. Female. Humans

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  • (PMID = 17894722.001).
  • [ISSN] 0926-9959
  • [Journal-full-title] Journal of the European Academy of Dermatology and Venereology : JEADV
  • [ISO-abbreviation] J Eur Acad Dermatol Venereol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Netherlands
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48. 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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49. Brellier F, Bergoglio V, Valin A, Barnay S, Chevallier-Lagente O, Vielh P, Spatz A, Gorry P, Avril MF, Magnaldo T: Heterozygous mutations in the tumor suppressor gene PATCHED provoke basal cell carcinoma-like features in human organotypic skin cultures. Oncogene; 2008 Nov 20;27(51):6601-6
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  • [Title] Heterozygous mutations in the tumor suppressor gene PATCHED provoke basal cell carcinoma-like features in human organotypic skin cultures.
  • Basal cell carcinoma of the skin is the most common type of cancer in humans.
  • The majority of these tumors displays aberrant activation of the SONIC HEDGEHOG (SHH)/PATCHED pathway, triggered by mutations in the PATCHED tumor suppressor gene, which encodes a transmembrane receptor of SHH.
  • In this study, we took advantage of the natural genotype (PATCHED(+/-)) of healthy keratinocytes expanded from patients with the nevoid basal cell carcinoma or Gorlin syndrome to mimic heterozygous somatic mutations thought to occur in the PATCHED gene early upon basal cell carcinoma development in the general population.
  • Deciphering the phenotype of PATCHED(+/-) keratinocytes revealed slight increases of the transcriptional activators GLI1 and GLI2-the latter known to provoke basal cell carcinoma-like tumors when overexpressed in transgenic mice.
  • PATCHED(+/-) keratinocytes also showed a substantial increase of the cell cycle regulator cyclin D1.
  • [MeSH-major] Carcinoma, Basal Cell / genetics. Mutation. Receptors, Cell Surface / genetics. Skin / pathology. Skin Neoplasms / genetics
  • [MeSH-minor] Base Sequence. Cell Transformation, Neoplastic / genetics. Cells, Cultured. DNA Mutational Analysis. Female. Gene Expression Regulation, Neoplastic. Genes, Tumor Suppressor / physiology. Genetic Predisposition to Disease. Heterozygote. Humans. Keratinocytes / metabolism. Keratinocytes / pathology. Male. Middle Aged. Models, Biological. Organ Culture Techniques


50. Sun S, Rao NL, Venable J, Thurmond R, Karlsson L: TLR7/9 antagonists as therapeutics for immune-mediated inflammatory disorders. Inflamm Allergy Drug Targets; 2007 Dec;6(4):223-35
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  • The TLR7 agonist imiquimod is currently used as a topical treatment for genital warts caused by human papillomavirus (HPV), actinic keratosis (AK) and superficial basal cell carcinoma.
  • TLR7/9 antagonists, such as the anti-malaria drugs chloroquine, hydroxychloroquine and quinacrine, have been used since the 1950s to treat immune-mediated inflammatory disorders (IMID) such as rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and Sjögren's syndrome.
  • Pre-clinical animal models as well as genetic linkage studies have indicated that TLR7/9 play a pivotal role in the aforementioned as well as other IMID such as multiple sclerosis (MS), inflammatory bowl disease (IBD)/colitis and psoriasis.

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  • (PMID = 18220957.001).
  • [ISSN] 1871-5281
  • [Journal-full-title] Inflammation & allergy drug targets
  • [ISO-abbreviation] Inflamm Allergy Drug Targets
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United Arab Emirates
  • [Chemical-registry-number] 0 / Adjuvants, Immunologic; 0 / Toll-Like Receptor 7; 0 / Toll-Like Receptor 9
  • [Number-of-references] 174
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51. Ramaglia L, Morgese F, Pighetti M, Saviano R: Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syndrome: case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2006 Aug;102(2):217-9
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  • [Title] Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syndrome: case report and literature review.
  • Nevoid basal cell carcinoma syndrome (NBCCS), an autosomal dominant disorder with a high degree of penetrance and variable expressivity, is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri.
  • More than 100 minor criteria have been described, but 2 major and 1 minor criteria or 1 major and 3 minor criteria are necessary for the diagnosis.
  • In this report we present an 8-year-old girl affected by NBCCS showing a uterus bicornis, a hitherto unreported association.
  • However, further research is needed to confirm the association between NBCCS and mullerian fusion defects and to assess the hypothesis that focuses on chromosome 9 the mutant gene for NBCCS and fusion defects of female genital tract.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology
  • [MeSH-minor] Child. Chromosomes, Human, Pair 9. Craniofacial Abnormalities / pathology. Female. Humans. Mandibular Diseases / pathology. Mullerian Ducts / abnormalities. Odontogenic Cysts / pathology. Uterus / abnormalities

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  • (PMID = 16876065.001).
  • [ISSN] 1528-395X
  • [Journal-full-title] Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
  • [ISO-abbreviation] Oral Surg Oral Med Oral Pathol Oral Radiol Endod
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 19
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52. Laimer M, Onder K, Schlager P, Lanschuetzer CM, Emberger M, Selhofer S, Hintner H, Bauer JW: Nonsense-associated altered splicing of the Patched gene fails to suppress carcinogenesis in Gorlin syndrome. Br J Dermatol; 2008 Jul;159(1):222-7
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  • [Title] Nonsense-associated altered splicing of the Patched gene fails to suppress carcinogenesis in Gorlin syndrome.
  • Mutations in the gene coding for the transmembrane receptor protein Patched (PTCH) are implicated in the autosomal dominant disorder Gorlin syndrome (also known as naevoid basal cell carcinoma syndrome), characterized by congenital abnormalities and cancer predisposition.
  • We describe a patient with Gorlin syndrome who had three molecular aberrations resulting in biallelic disruption of the PTCH gene, leading to abnormal protein expression and development of basal cell carcinoma.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Codon, Nonsense / genetics. Precancerous Conditions / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 18476955.001).
  • [ISSN] 1365-2133
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / DNA, Neoplasm; 0 / Hedgehog Proteins; 0 / Membrane Proteins; 0 / Receptor, Melanocortin, Type 1; 0 / Receptors, Cell Surface; 0 / patched receptors
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53. Cohen MM Jr: Hedgehog signaling update. Am J Med Genet A; 2010 Aug;152A(8):1875-914
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  • In vertebrate hedgehog signaling, hedgehog ligands are processed to become bilipidated and then multimerize, which allows them to leave the signaling cell via Dispatched 1 and become transported via glypicans and megalin to the responding cells.
  • Disorders associated with the hedgehog signaling network follow, including nevoid basal cell carcinoma syndrome, holoprosencephaly, Smith-Lemli-Opitz syndrome, Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Carpenter syndrome, and Rubinstein-Taybi syndrome.

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  • (PMID = 20635334.001).
  • [ISSN] 1552-4833
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Hedgehog Proteins
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54. Kaminaka C, Yamamoto Y, Furukawa F: Nevoid basal cell carcinoma syndrome successfully treated with trichloroacetic acid and phenol peeling. J Dermatol; 2007 Dec;34(12):841-3
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  • [Title] Nevoid basal cell carcinoma syndrome successfully treated with trichloroacetic acid and phenol peeling.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Caustics / therapeutic use. Phenol / therapeutic use. Sclerosing Solutions / therapeutic use. Skin Neoplasms / drug therapy. Trichloroacetic Acid / therapeutic use

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  • (PMID = 18078412.001).
  • [ISSN] 0385-2407
  • [Journal-full-title] The Journal of dermatology
  • [ISO-abbreviation] J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / Caustics; 0 / Sclerosing Solutions; 339NCG44TV / Phenol; 5V2JDO056X / Trichloroacetic Acid
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55. Zurada J, Ratner D: Diagnosis and treatment of basal cell nevus syndrome. Skinmed; 2005 Mar-Apr;4(2):107-10
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Diagnosis and treatment of basal cell nevus syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / therapy. Skin Neoplasms / diagnosis. Skin Neoplasms / therapy

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  • (PMID = 15788894.001).
  • [ISSN] 1540-9740
  • [Journal-full-title] Skinmed
  • [ISO-abbreviation] Skinmed
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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56. Lee YW, Roh BH, Ki CS, Park YL, Shin HB, Lee YK, Choi TY, Whang KU: Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndrome. Clin Exp Dermatol; 2007 Mar;32(2):202-3
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  • [Title] Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / genetics. Germ-Line Mutation. Receptors, Cell Surface / genetics

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  • (PMID = 16780502.001).
  • [ISSN] 0307-6938
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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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. 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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59. Barker L, Lo S, Sudderick R: Gorlin's syndrome presenting with myolipoma of tongue base. J Laryngol Otol; 2008 Oct;122(10):1130-2
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  • [Title] Gorlin's syndrome presenting with myolipoma of tongue base.
  • OBJECTIVE: We report the first case of tongue base myolipoma associated with Gorlin's syndrome.
  • RESULTS: A 39-year-old man with known Gorlin's syndrome presented with progressive dysphagia.
  • Subsequent magnetic resonance imaging scan and biopsy confirmed the rare diagnosis of myolipoma arising from the tongue base.
  • This case appears to represent a new variant in the broad spectrum of features of Gorlin's syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Lipoma / pathology. Tongue Neoplasms / pathology

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  • (PMID = 17908355.001).
  • [ISSN] 1748-5460
  • [Journal-full-title] The Journal of laryngology and otology
  • [ISO-abbreviation] J Laryngol Otol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 23
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60. 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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61. Choudry Q, Patel HC, Gurusinghe NT, Evans DG: Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: implications for treatment and surveillance. Childs Nerv Syst; 2007 Jan;23(1):133-6
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  • [Title] Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: implications for treatment and surveillance.
  • INTRODUCTION: We report two cases of radiation-induced intracranial tumours after treatment for medulloblastoma presenting in children with nevoid basal cell carcinoma syndrome.
  • DISCUSSION: These cases illustrate the need for judicious use of post-operative radiotherapy as secondary tumors are commonly reported.
  • [MeSH-minor] Adolescent. Adult. Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / genetics. Basal Cell Nevus Syndrome / physiopathology. Female. Humans. Infant. Male

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  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
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62. Hanneken S, Sterzinger AA, Schulte KW, Reifenberger J: [Photodynamic therapy for a nevoid basal cell carcinoma syndrome]. Hautarzt; 2005 Apr;56(4):363-4
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  • [Title] [Photodynamic therapy for a nevoid basal cell carcinoma syndrome].
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Basal Cell Nevus Syndrome / pathology. Head and Neck Neoplasms / drug therapy. Head and Neck Neoplasms / pathology. Photochemotherapy / methods. Skin Neoplasms / drug therapy. Skin Neoplasms / pathology


63. Sicinska J, Rakowska A, Czuwara-Ladykowska J, Mroz A, Lipinski M, Nasierowska-Guttmejer A, Sikorska J, Sklinda K, Slowinska M, Kowalska-Oledzka E, Walecka I, Walecki J, Rudnicka L: Cylindroma transforming into basal cell carcinoma in a patient with Brooke-Spiegler syndrome. J Dermatol Case Rep; 2007 Dec 29;1(1):4-9
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  • [Title] Cylindroma transforming into basal cell carcinoma in a patient with Brooke-Spiegler syndrome.
  • BACKGROUND: Brooke-Spiegler syndrome is a rare condition with a predisposition to develop cutaneous adnexal neoplasms, especially cylindromas, trichoepitheliomas and spiradenomas.
  • We present an unusual case of basal cell carcinoma developing within a preexisting cylindroma.
  • MAIN OBSERVATIONS: 58-year-old woman with a 30-year history of multiple dermal cylindromas extensively involving her scalp was referred for dermatological treatment.
  • Histopathology confirmed cylindromas and basal cell carcinoma within the ulcerating tumor.
  • Surgical excision of largest cylindroma tumors led to cosmetic and functional improvement.
  • CONCLUSION: Patients with Brooke-Spiegler syndrome should be followed-up for malignant transformation of skin tumors to prevent deep penetration and possible metastases.

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  • (PMID = 21886698.001).
  • [ISSN] 1898-7249
  • [Journal-full-title] Journal of dermatological case reports
  • [ISO-abbreviation] J Dermatol Case Rep
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Poland
  • [Other-IDs] NLM/ PMC3157764
  • [Keywords] NOTNLM ; basal cell carcinoma / computed tomography / cylindroma / magnetic resonance imaging / syringoma / trichoepithelioma / turban tumor
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64. Kazakov DV, Zelger B, Rütten A, Vazmitel M, Spagnolo DV, Kacerovska D, Vanecek T, Grossmann P, Sima R, Grayson W, Calonje E, Koren J, Mukensnabl P, Danis D, Michal M: Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome. Am J Surg Pathol; 2009 May;33(5):705-19
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  • [Title] Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome.
  • Nineteen patients (12 females, 7 males; age range, 41 to 92 y) had a solitary neoplasm (size range, 2.2 to 17.5 cm; median 4 cm), whereas the remaining 5 (4 females, 1 male; age range, 66 to 72 y) manifested clinical features of Brooke-Spiegler syndrome (BSS), an autosomal dominantly inherited disease characterized by widespread, small, benign neoplasms on which background larger malignant lesions appeared.
  • 1) salivary gland type basal cell adenocarcinoma-like pattern, low-grade (BCAC-LG);.
  • 2) salivary gland type basal cell adenocarcinoma-like pattern, high-grade (BCAC-HG);.
  • 3) invasive adenocarcinoma, not otherwise specified (IAC-NOS); and 4) sarcomatoid (metaplastic) carcinoma.
  • Cases harboring a sarcomatoid carcinoma featured a malignant epithelial component composed of varying combinations of BCAC-HG, BCAC-LG, IAC-NOS, or squamous cell carcinoma, whereas the sarcomatoid component appeared as either a pleomorphic or spindle-cell sarcoma.
  • Of the 21 patients with available follow-up (range, 3 mo-15 y; average 4.8 y; median 3.5 y), 10 were without evidence of disease, 1 was alive with metastatic disease, 1 was alive with BSS, 3 developed local recurrences, 4 had died of disease, and 2 were dead of other causes.
  • Patients with sarcomatoid carcinoma had a relatively good survival.
  • Given the morphologic diversity and complexity of the neoplasms in question, we propose using a more specific terminology with the precise description of the neoplasm components, rather than generic and less informative terms such as "spiradenocarcinoma" or "carcinoma ex cylindroma. "
  • [MeSH-major] Adenoma / pathology. Carcinoma / pathology. Carcinoma, Adenoid Cystic / pathology. Neoplasms, Multiple Primary / pathology. Salivary Gland Neoplasms / pathology. Sarcoma / pathology. Soft Tissue Neoplasms / pathology
  • [MeSH-minor] Adenocarcinoma / pathology. Adult. Aged. Aged, 80 and over. Australia. Carcinoma, Skin Appendage / pathology. Carcinoma, Squamous Cell / pathology. Cell Differentiation. Chromosomes, Human, Pair 16. Europe. Female. Gene Expression Regulation, Neoplastic. Humans. Immunohistochemistry. Male. Metaplasia. Middle Aged. Mutation. Neoplasm Invasiveness. South Africa. Syndrome. Treatment Outcome. Tumor Suppressor Proteins / genetics


65. Scott A, Strouthidis NG, Robson AG, Forsyth J, Maher ER, Schlottmann PG, Michaelides M: Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation. Am J Ophthalmol; 2007 Feb;143(2):346-8
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  • [Title] Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.
  • PURPOSE: To present the detailed ocular phenotype of a subject with Gorlin syndrome (GS) (basal cell nevus syndrome; OMIM 109400) and to undertake mutation screening of the gene Patched (PTCH).
  • CONCLUSIONS: We present a case of bilateral ERM in GS with a molecular genetic diagnosis.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Codon, Nonsense. Epiretinal Membrane / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 17258529.001).
  • [ISSN] 0002-9394
  • [Journal-full-title] American journal of ophthalmology
  • [ISO-abbreviation] Am. J. Ophthalmol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / Receptors, Cell Surface; 0 / patched receptors
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66. Li J, Wang J, Liu Y, Wang W: Analysis of mutation in exon 17 of PTCH in patients with nevoid basal cell carcinoma syndrome. Mol Biol Rep; 2010 Jan;37(1):359-62
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  • [Title] Analysis of mutation in exon 17 of PTCH in patients with nevoid basal cell carcinoma syndrome.
  • Abnormalities in sonic hedgehog (SHH) signaling pathway components are major contributing factors in the development of nevoid basal cell carcinoma syndromes (NBCCS) that include SHH, PTCH, SMO and GLI.
  • The novel patched homologue (PTCH) mutation and clinical manifestations with NBCCS links PTCH haplosufficiency and aberrant activation of the sonic hedgehog/Patched/smoothened pathway.
  • To investigate further the molecular genetics of NBCCS, we performed mutation analysis of PTCH gene in a family case with five affected members.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Exons / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 19728145.001).
  • [ISSN] 1573-4978
  • [Journal-full-title] Molecular biology reports
  • [ISO-abbreviation] Mol. Biol. Rep.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / GLI1 protein, human; 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Receptors, Cell Surface; 0 / Transcription Factors; 0 / Zinc Finger Protein GLI1
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67. 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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68. Fogel BL, Perlman S: An approach to the patient with late-onset cerebellar ataxia. Nat Clin Pract Neurol; 2006 Nov;2(11):629-35; quiz 1 p following 635
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  • BACKGROUND: An 83-year-old man presented with hypertension, hyperlipidemia, and a previous basal cell carcinoma, having developed progressive worsening of his balance and difficulty walking at the age of 78 years.
  • The patient then underwent multiple evaluations for an underlying paraneoplastic process, all of which were negative, but his symptoms progressed and he remained undiagnosed for several years.
  • DIAGNOSIS: Five years after becoming symptomatic, the patient was re-evaluated for a possible genetic ataxia syndrome, which was subsequently confirmed by gene testing as spinocerebellar ataxia type 6 (SCA6).
  • [MeSH-minor] Aged, 80 and over. Diagnosis, Differential. Humans. Hyperlipidemias / complications. Hypertension / complications. Magnetic Resonance Imaging. Male. Neurologic Examination / methods

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  • (PMID = 17057750.001).
  • [ISSN] 1745-834X
  • [Journal-full-title] Nature clinical practice. Neurology
  • [ISO-abbreviation] Nat Clin Pract Neurol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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69. Schütt F, Staff C, Stein T, Hartschuh W, Dithmar S: [Photodynamic therapy of lid basal cell carcinomas in a 13-year-old patient with Gorlin Goltz syndrome]. Klin Monbl Augenheilkd; 2007 Aug;224(8):670-3
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  • [Title] [Photodynamic therapy of lid basal cell carcinomas in a 13-year-old patient with Gorlin Goltz syndrome].
  • [Transliterated title] Photodynamische Therapie von Lidbasaliomen bei 13-jährigem Patienten mit Gorlin-Goltz-Syndrom.
  • BACKGROUND: Gorlin Goltz syndrome is a rare, autosomal dominant inherited disease that is characterised by multiple basal cell carcinomas (BCC) including the periorbital region and eye lids.
  • PATIENT: A 13-year-old boy with Gorlin Goltz syndrome presented with multiple confluent BCC on both eye lids and the skin of neck and trunk.
  • Multiple bilateral periorbital confluent and surgically not removable BCC were treated by topical PDT.
  • RESULTS: Numerous superficial BCC were successfully treated by photodynamic therapy with remarkable cosmetic results.
  • CONCLUSION: In cases of numerous confluent and surgically not removable BCC, PDT represents an effective therapy.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / drug therapy. Carcinoma, Basal Cell / pathology. Eyelid Neoplasms / drug therapy. Eyelid Neoplasms / pathology. Photochemotherapy / methods

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  • (PMID = 17717785.001).
  • [ISSN] 0023-2165
  • [Journal-full-title] Klinische Monatsblätter für Augenheilkunde
  • [ISO-abbreviation] Klin Monbl Augenheilkd
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
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70. 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


71. 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
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72. Rizzardi C, Perin T, Schneider M, Rossi D, Brollo A, Melato M, Canzonieri V: Carcinoma of the uterine cervix with squamous and sebaceous differentiation. Int J Gynecol Pathol; 2009 May;28(3):292-5
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  • [Title] Carcinoma of the uterine cervix with squamous and sebaceous differentiation.
  • Sebaceous neoplasms, including carcinoma, can exceptionally arise in extracutaneous sites.
  • We present the third known case of carcinoma with sebaceous differentiation in the uterine cervix.
  • Histologic and immunohistochemical features suggested a metaplastic process within an otherwise usual squamous cell carcinoma.
  • We speculate that, by analogy with the skin where the epidermis and the 3 types of adnexa have a common embryologic origin from basal cell layer of the superficial ectoderm, it is possible that endocervical reserve cells, in addition to the well-known capacity of squamous differentiation, retain the potential to give rise to appendages including sebaceous glands.
  • [MeSH-major] Carcinoma, Squamous Cell / pathology. Sebaceous Glands / pathology. Uterine Cervical Neoplasms / pathology
  • [MeSH-minor] Antineoplastic Combined Chemotherapy Protocols. Cell Differentiation. Combined Modality Therapy. Fatal Outcome. Female. Guillain-Barre Syndrome / pathology. Hepatitis C / complications. Humans. Hysterectomy. Middle Aged. Neoadjuvant Therapy. Neoplasm Recurrence, Local / pathology. Radiotherapy

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  • (PMID = 19620949.001).
  • [ISSN] 1538-7151
  • [Journal-full-title] International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
  • [ISO-abbreviation] Int. J. Gynecol. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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73. Silva Gurgel CA, Gonçalves Ramos EA, Araújo Melo L, Brandi Schlaepfer C, de Souza RO, Campos Oliveira M, dos Santos JN: Immunolocalisation of laminin-1 in keratocystic odontogenic tumors. Acta Histochem; 2010 Nov;112(6):624-9
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  • [Title] Immunolocalisation of laminin-1 in keratocystic odontogenic tumors.
  • Keratocystic odontogenic tumors (KOTs) are distinct odontogenic lesions frequently affecting the jawbones.
  • They may be associated with nevoid basal cell carcinoma syndrome (NBCCS), and may exhibit disorders involving the extracellular matrix.
  • The aim of this study was to investigate the immunolocalisation of laminin-1 in 20 cases of KOTs in order to contribute to the characterization of this protein, which is little studied in odontogenic tumors.
  • Furthermore, the discontinuous and weak labelling of this protein in the basement membrane of these tumors is probably a consequence of the inflammatory process in the tumor stroma.
  • [MeSH-major] Jaw Neoplasms / metabolism. Jaw Neoplasms / pathology. Laminin / analysis. Odontogenic Tumors / metabolism. Odontogenic Tumors / pathology

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  • [Copyright] Copyright © 2009 Elsevier GmbH. All rights reserved.
  • (PMID = 19773031.001).
  • [ISSN] 1618-0372
  • [Journal-full-title] Acta histochemica
  • [ISO-abbreviation] Acta Histochem.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Laminin; 0 / laminin 1
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74. Leonardi R, Santarelli A, Barbato E, Ciavarella D, Bolouri S, Härle F, Palazzo G, Lo Muzio L: Atlanto-occipital ligament calcification: a novel sign in nevoid basal cell carcinoma syndrome. Anticancer Res; 2010 Oct;30(10):4265-7
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  • [Title] Atlanto-occipital ligament calcification: a novel sign in nevoid basal cell carcinoma syndrome.
  • BACKGROUND: The nevoid basal cell carcinoma syndrome (NBCCS), first described by Gorlin and Goltz in 1960, is a hereditary autosomal dominant disease with high penetrance and variable expressivity.
  • Almost 70% of patients with NBCCS have some degree of craniofacial anomaly.
  • Therefore this investigation was carried out to determine the prevalence of atlanto-occipital ligament calcification on lateral x-ray of NBCCS patients aiming to assess the effectiveness of this sign in NBCCS diagnosis.
  • PATIENTS AND METHODS: Lateral and frontal cephalometric radiographs of 18 patients (11 males and 7 females), aged 8-61 years, with the diagnosis of NBCCS were evaluated for the presence of intracranial calcifications (diaphragma sellae and falx cerebri) and or calcification of the atlanto-occipital ligament.
  • CONCLUSION: The calcification of the atlanto-occipital ligament should be considered in addition to the other major criteria for NBCCS diagnosis.
  • [MeSH-major] Atlanto-Occipital Joint / pathology. Basal Cell Nevus Syndrome / pathology. Calcinosis / pathology

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  • (PMID = 21036751.001).
  • [ISSN] 1791-7530
  • [Journal-full-title] Anticancer research
  • [ISO-abbreviation] Anticancer Res.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Greece
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75. Ragge NK, Salt A, Collin JR, Michalski A, Farndon PA: Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation. Br J Ophthalmol; 2005 Aug;89(8):988-91
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  • [Title] Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.
  • RESULTS: A mutation in exon 10 of the PTCH gene was identified, confirming a diagnosis of Gorlin syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Cerebellar Neoplasms / genetics. Medulloblastoma / genetics. Microphthalmos / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 16024850.001).
  • [ISSN] 0007-1161
  • [Journal-full-title] The British journal of ophthalmology
  • [ISO-abbreviation] Br J Ophthalmol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Other-IDs] NLM/ PMC1772759
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76. Bacanli A, Ciftcioglu MA, Savas B, Alpsoy E: Nevoid basal cell carcinoma syndrome associated with unilateral renal agenesis: acceleration of basal cell carcinomas following radiotherapy. J Eur Acad Dermatol Venereol; 2005 Jul;19(4):510-1
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  • [Title] Nevoid basal cell carcinoma syndrome associated with unilateral renal agenesis: acceleration of basal cell carcinomas following radiotherapy.
  • [MeSH-major] Basal Cell Nevus Syndrome / radiotherapy. Carcinoma, Basal Cell / diagnosis. Kidney Diseases / complications. Neoplasms, Radiation-Induced / diagnosis. Radiotherapy / adverse effects. Skin Neoplasms / diagnosis
  • [MeSH-minor] Adult. Diagnosis, Differential. Humans. Male


77. 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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78. Edwards L: Pigmented vulvar lesions. Dermatol Ther; 2010 Sep-Oct;23(5):449-57
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  • Pigmented lesions represent an enormous range of conditions, from benign to malignant tumors, and from infectious to post-inflammatory.
  • [MeSH-major] Nevus, Pigmented / pathology. Pigmentation Disorders / pathology. Skin Neoplasms / pathology. Vulva / pathology
  • [MeSH-minor] Acanthosis Nigricans / pathology. Angiokeratoma / pathology. Bowen's Disease / pathology. Carcinoma, Basal Cell / pathology. Condylomata Acuminata / pathology. Dysplastic Nevus Syndrome / pathology. Female. Humans. Keratosis, Seborrheic / pathology. Melanoma / pathology. Melanosis / pathology

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  • [Copyright] © 2010 Wiley Periodicals, Inc.
  • (PMID = 20868400.001).
  • [ISSN] 1529-8019
  • [Journal-full-title] Dermatologic therapy
  • [ISO-abbreviation] Dermatol Ther
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Denmark
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79. Santos-Silva AR, Correa MB, Vargas PA, Almeida OP, Lopes MA: Bazex syndrome (acrokeratosis paraneoplastica) diagnosed in a patient with oral persistent ulcerations. Head Neck Pathol; 2010 Dec;4(4):312-7
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  • [Title] Bazex syndrome (acrokeratosis paraneoplastica) diagnosed in a patient with oral persistent ulcerations.
  • Paraneoplastic syndromes associated with head and neck cancer are rare and have been reported under dermatological, endocrine, hematological, neurological and rheumatological disorders.
  • Bazex syndrome is an intriguing paraneoplasia that can be associated with head and neck squamous cell carcinomas.
  • A range of symmetrical dermatological manifestations, with a clear predilection to extremities, that encompasses erythematous squamous plaques, skin scaling and nail dystrophy can provide a psoriasiform pattern in Bazex syndrome.
  • In addition to these tricky clinical features, the rarity of the disease and the lack of understanding on Bazex syndrome generally make such cases to be mismanaged as psoriasis or lichen planus, causing an important delay in the diagnosis of the underlying malignancy.
  • The authors describe a case of Bazex syndrome that occurred in a patient with a recently diagnosed tongue squamous cell carcinoma.
  • [MeSH-major] Onycholysis / pathology. Oral Ulcer / pathology. Paraneoplastic Syndromes / pathology. Skin Diseases, Papulosquamous / pathology
  • [MeSH-minor] Aneurysm / pathology. Carcinoma, Basal Cell / pathology. Fatal Outcome. Histiocytoma, Benign Fibrous / pathology. Humans. Hypotrichosis / pathology. Male. Middle Aged. Mucous Membrane / pathology. Penile Diseases / pathology. Skin / pathology. Skin Neoplasms / pathology

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  • (PMID = 20721648.001).
  • [ISSN] 1936-0568
  • [Journal-full-title] Head and neck pathology
  • [ISO-abbreviation] Head Neck Pathol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] Bazex-Dupre-Christol syndrome
  • [Other-IDs] NLM/ PMC2996492
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80. Dixon AJ, Hall RS: Managing skin cancer--23 golden rules. Aust Fam Physician; 2005 Aug;34(8):669-71
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [MeSH-major] Family Practice / methods. Family Practice / standards. Skin Neoplasms / diagnosis. Skin Neoplasms / therapy
  • [MeSH-minor] Bandages. Carcinoma, Basal Cell / therapy. Carcinoma, Squamous Cell / therapy. Clinical Competence. Dermoscopy / methods. Dysplastic Nevus Syndrome / therapy. Facial Neoplasms / therapy. Humans. Melanoma / surgery. Peripheral Nervous System Diseases / etiology. Peripheral Nervous System Diseases / therapy. Physical Examination / instrumentation. Physical Examination / methods. Practice Guidelines as Topic. Secondary Prevention. Wound Healing

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  • (PMID = 16113705.001).
  • [ISSN] 0300-8495
  • [Journal-full-title] Australian family physician
  • [ISO-abbreviation] Aust Fam Physician
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Australia
  • [Number-of-references] 0
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81. Kassem A, Pantulu D, Technau K, Kurz AK, Diaz C, Hörster S, Nashan D, Weyers W, Zur Hausen A: Merkel cell polyomavirus in naevoid basal cell carcinoma syndrome-associated basal cell carcinomas and sporadic trichoblastomas. J Dermatol Sci; 2010 Aug;59(2):140-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Merkel cell polyomavirus in naevoid basal cell carcinoma syndrome-associated basal cell carcinomas and sporadic trichoblastomas.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / genetics. Carcinoma, Merkel Cell / genetics. DNA, Neoplasm / genetics. DNA, Viral / genetics. Polyomavirus / genetics. Skin Neoplasms / genetics

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  • (PMID = 20654786.001).
  • [ISSN] 1873-569X
  • [Journal-full-title] Journal of dermatological science
  • [ISO-abbreviation] J. Dermatol. Sci.
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / DNA, Viral
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82. 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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83. Zhang XB, Zhang SQ, Li CX, Huang ZM, Luo YW: Acitretin systemic and retinoic acid 0.1% cream supression of basal cell carcinoma. Dermatol Reports; 2010 Jan 18;2(1):e4
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  • [Title] Acitretin systemic and retinoic acid 0.1% cream supression of basal cell carcinoma.
  • Retinoids have been used for years as monotherapy and/or in combination for treatment and suppression of cutaneous malignancies in patients with basal cell nevus syndrome, xeroderma pigmentosum, or cutaneous T-cell lymphoma (CTCL) basal cell carcinoma (BCC).
  • We report 4 cases with BCC confirmed by histopathology who were treated by short-term systemic acitretin combined with retinoic acid 0.1% cream.
  • The 4 cases with BCC showed good response to the treatment without severe adverse effects during treatment and follow-up.
  • The finding suggests that acitretin may be an appropriate treatment option for elderly patients who require less invasive treatment for BCC.

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  • (PMID = 25386240.001).
  • [ISSN] 2036-7392
  • [Journal-full-title] Dermatology reports
  • [ISO-abbreviation] Dermatol Reports
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Italy
  • [Other-IDs] NLM/ PMC4211482
  • [Keywords] NOTNLM ; acitretin / basal cell carcinoma.
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84. 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


85. Alghamdi Y: Skin tags as a presenting sign of basal cell nevus syndrome in three sisters of the same family. Ann Saudi Med; 2008 Mar-Apr;28(2):132-4
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  • [Title] Skin tags as a presenting sign of basal cell nevus syndrome in three sisters of the same family.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Carcinoma, Basal Cell / diagnosis. Skin Neoplasms / diagnosis

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  • (PMID = 18398273.001).
  • [ISSN] 0256-4947
  • [Journal-full-title] Annals of Saudi medicine
  • [ISO-abbreviation] Ann Saudi Med
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Saudi Arabia
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86. Sasaki R, Saito K, Watanabe Y, Takayama Y, Fujii K, Agawa K, Miyashita T, Ando T, Akizuki T: Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations. J Hum Genet; 2009 Jul;54(7):398-402
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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 with cleft lip and palate associated with the novel PTCH gene mutations.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by developmental abnormalities and a predisposition to cancers.
  • Two unrelated patients, 21- and 16-year-old males, with cleft lip and palate and multiple jaw cysts, were diagnosed according to clinical criteria.
  • To confirm a diagnosis of NBCCS, we undertook a molecular genetic analysis of the PTCH gene.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / genetics. Cleft Lip / complications. Cleft Palate / complications. Genetic Predisposition to Disease. Mutation / genetics. Receptors, Cell Surface / genetics


87. Fan Z, Li J, Du J, Zhang H, Shen Y, Wang CY, Wang S: A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. J Med Genet; 2008 May;45(5):303-8
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  • [Title] A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.
  • BACKGROUND: Naevoid basal cell carcinoma syndrome (NBCCS) is a pleiotropic, autosomal dominant disease.
  • Growing evidence suggests that the disorder may result from mutations in genes of the Sonic hedgehog (Shh) signalling pathway.
  • OBJECTIVE: To investigate the pathogenic gene in a Chinese Han family with NBCCS.
  • A GLI1 reporter gene and a cell growth curve were used to examine functional consequences of the detected mutant.
  • RESULTS: One novel mutation, a G-->A transition (2157G-->A) in exon 15 of the PTCH2 gene, was identified in this family with NBCCS by direct sequencing and digestion with the AvaI restriction enzyme.
  • In contrast to wild type PTCH2, PTCH2-R719Q could not inhibit cell proliferation.
  • CONCLUSION: PTCH2 (2157G-->A), a novel missense mutation, underlies NBCCS, resulting in the loss of PTCH2 inhibitory function in the Shh signalling pathway.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation, Missense. Receptors, Cell Surface / genetics

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  • (PMID = 18285427.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] eng
  • [Publication-type] Letter; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / Receptors, Cell Surface; 0 / SHH protein, human; 0 / patched receptors
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88. Sand M, Bechara FG, Sand D, Moussa G, Stücker M, Altmeyer P, Hoffmann K, Rotterdam S: Polyglandular autoimmune syndrome associated with pigmented basal cell carcinoma. J Dermatol; 2005 Dec;32(12):1044-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Polyglandular autoimmune syndrome associated with pigmented basal cell carcinoma.
  • [MeSH-major] Carcinoma, Basal Cell / pathology. Polyendocrinopathies, Autoimmune / diagnosis. Skin Neoplasms / pathology

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  • (PMID = 16471475.001).
  • [ISSN] 0385-2407
  • [Journal-full-title] The Journal of dermatology
  • [ISO-abbreviation] J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Japan
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89. Pazzaglia S: Ptc1 heterozygous knockout mice as a model of multi-organ tumorigenesis. Cancer Lett; 2006 Mar 28;234(2):124-34
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Mutations in the Ptc1 gene are responsible for basal cell nevus (BCN) syndrome, and are commonly found in sporadic basal cell carcinomas (BCC) and in medulloblastoma (MB).
  • Similar to BCN syndrome patients, the Ptc1 mouse model is characterized by tumor predisposition and radiation hypersensitivity.
  • Ptc1(+/-) mice develop spontaneous rhabdomyosarcoma (RMS) and medulloblastoma (MB), as well as BCC following radiation exposure.
  • The close phenotypic resemblance to the human disease makes these mice a unique preclinical model to test chemopreventive and therapeutic interventions.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / genetics. Disease Models, Animal. Medulloblastoma / genetics. Mice. Receptors, Cell Surface / genetics
  • [MeSH-minor] Animals. Genetic Predisposition to Disease. Heterozygote. Humans. Mice, Knockout

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  • (PMID = 15925443.001).
  • [ISSN] 0304-3835
  • [Journal-full-title] Cancer letters
  • [ISO-abbreviation] Cancer Lett.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] Ireland
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Number-of-references] 79
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90. Miyamoto D, Miyamoto M, Takahashi A, Yomogita Y, Higashi H, Kondo S, Hatakeyama M: Isolation of a distinct class of gain-of-function SHP-2 mutants with oncogenic RAS-like transforming activity from solid tumors. Oncogene; 2008 Jun 5;27(25):3508-15
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  • [Title] Isolation of a distinct class of gain-of-function SHP-2 mutants with oncogenic RAS-like transforming activity from solid tumors.
  • Gain-of-function mutations in the PTPN11 gene, which encodes SHP-2, have been found in the leukemia-prone developmental disorder Noonan syndrome as well as sporadic childhood leukemias, indicating that SHP-2 is a bona fide human oncoprotein.
  • Here, we screened for PTPN11 mutations in primary solid tumors and identified a 1520C>A mutation that causes threonine-507 to lysine (T507K) substitution in the phosphatase domain of SHP-2 in a case of hepatocellular carcinoma.
  • T507K SHP-2 exhibited altered substrate specificity with slightly elevated basal phosphatase activity.
  • Furthermore, NIH3T3 cells transformed by T507K SHP-2 showed anchorage-independent growth and developed tumors in nude mice.
  • These results indicate that quantitative and/or qualitative alteration in phosphatase activity determines the transforming potential as well as target cell/tissue spectrum of individual SHP-2 mutants as oncoproteins.
  • Although rare in solid tumors, the identified T507K SHP-2 represents a distinct class of SHP-2 mutants with oncogenic RAS-like transforming activity, which could contribute to the development of solid tumors.
  • [MeSH-major] Cell Transformation, Neoplastic. Liver Neoplasms / genetics. Liver Neoplasms / metabolism. Mutation. Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics. Protein Tyrosine Phosphatase, Non-Receptor Type 11 / metabolism. ras Proteins / metabolism
  • [MeSH-minor] Aged. Aged, 80 and over. Animals. Carcinoma, Hepatocellular / pathology. Cell Line, Tumor. Female. Humans. Male. Mice. Mice, Nude. Middle Aged. NIH 3T3 Cells

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  • (PMID = 18223690.001).
  • [ISSN] 1476-5594
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] EC 3.1.3.48 / PTPN11 protein, human; EC 3.1.3.48 / Protein Tyrosine Phosphatase, Non-Receptor Type 11; EC 3.1.3.48 / Ptpn11 protein, mouse; EC 3.6.5.2 / ras Proteins
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91. 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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92. Braathen LR, Szeimies RM, Basset-Seguin N, Bissonnette R, Foley P, Pariser D, Roelandts R, Wennberg AM, Morton CA, International Society for Photodynamic Therapy in Dermatology: Guidelines on the use of photodynamic therapy for nonmelanoma skin cancer: an international consensus. International Society for Photodynamic Therapy in Dermatology, 2005. J Am Acad Dermatol; 2007 Jan;56(1):125-43
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Topical photodynamic therapy (PDT) is used to treat nonmelanoma skin cancers, such as actinic keratoses, Bowen's disease, and basal cell carcinoma (superficial and nodular).
  • Topical PDT is highly effective in the treatment of actinic keratoses, Bowen's disease, superficial and thin nodular basal cell carcinomas, with cosmesis typically superior to that achieved with existing standard therapies.
  • [MeSH-minor] Aminolevulinic Acid / analogs & derivatives. Aminolevulinic Acid / therapeutic use. Australia / epidemiology. Basal Cell Nevus Syndrome / drug therapy. Bowen's Disease / drug therapy. Carcinoma, Basal Cell / drug therapy. Carcinoma, Basal Cell / pathology. Carcinoma, Squamous Cell / drug therapy. Double-Blind Method. Humans. Immunocompromised Host. Incidence. Keratosis / drug therapy. Multicenter Studies as Topic. Patient Satisfaction. Photosensitivity Disorders / drug therapy. Randomized Controlled Trials as Topic. Skin Diseases / drug therapy. United States / epidemiology


93. Tang JY, Wu A, Linos E, Parimi N, Lee W, Aszterbaum M, Asgari MM, Bickers DR, Epstein EH Jr: High prevalence of vitamin D deficiency in patients with basal cell nevus syndrome. Arch Dermatol; 2010 Oct;146(10):1105-10
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  • [Title] High prevalence of vitamin D deficiency in patients with basal cell nevus syndrome.
  • OBJECTIVES: To evaluate vitamin D status in patients with basal cell nevus syndrome (BCNS) who practice photoprotection because of their genetic predisposition to skin cancer and to determine risk factors for deficiency.
  • PATIENTS: Forty-one ambulatory patients with BCNS who participated in a 2-year chemoprevention clinical trial.
  • RESULTS: Twenty-three patients with BCNS (56%) were vitamin D deficient.
  • Patients with BCNS had mean 25(OH)D levels below those of the general population (-3 ng/mL; P = .02) and were 3 times more likely to be vitamin D deficient (56% vs 18%; P < .001).
  • CONCLUSION: Patients with BCNS may be at increased risk for vitamin D deficiency, depending on their adherence to photoprotection practices.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Skin Neoplasms / complications. Vitamin D Deficiency / epidemiology. Vitamin D Deficiency / etiology

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  • (PMID = 20956641.001).
  • [ISSN] 1538-3652
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Databank-accession-numbers] ClinicalTrials.gov/ NCT00023621
  • [Grant] United States / NCI NIH HHS / CA / U19 CA081888; United States / NIAMS NIH HHS / AR / 1K23AR056736-01; United States / NCI NIH HHS / CA / CA81888; United States / NCRR NIH HHS / RR / KL2 RR024130; United States / NIAMS NIH HHS / AR / K23 AR056736-03; United States / NCI NIH HHS / CN / CN-95116; United States / NCRR NIH HHS / RR / KL2RR024130; United States / NIAMS NIH HHS / AR / K23 AR056736
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 1406-16-2 / Vitamin D; 64719-49-9 / 25-hydroxyvitamin D
  • [Other-IDs] NLM/ NIHMS298538; NLM/ PMC3775573
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94. Loncaster JA, Moore JV, Allan D, Allan E: An ultrasound analysis of the response of Gorlin syndrome-related and sporadic basal cell carcinomas to aminolaevulinic acid photodynamic therapy. Photodiagnosis Photodyn Ther; 2005 Jun;2(2):149-55
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] An ultrasound analysis of the response of Gorlin syndrome-related and sporadic basal cell carcinomas to aminolaevulinic acid photodynamic therapy.
  • BACKGROUND: Gorlin Syndrome (naevoid basal cell carcinoma syndrome, NBCCS) predisposes the patient to the development of basal cell carcinomas (BCCs) throughout their life.
  • However, when numerous surgical procedures are required over time, the patient can be left with multiple disfiguring scars.
  • This study evaluates PDT as a treatment modality for Gorlin Syndrome and compares the treatment response of Gorlin-related basal cell carcinomas with that of the sporadic lesions.
  • METHODS: In this un-randomized study, basal cell carcinomas in 25 Gorlin syndrome patients (with 36 lesions) and 145 sporadic patients (with 189 lesions) were treated by photodynamic therapy, using δ-5-aminolaevulinic acid (ALA) as a photosensitizer and 100Jcm(-2) of red light (630±15nm).
  • The maximum thickness of the BCC was measured by 20MHz pulsed ultrasound prior to treatment and again 4-6 weeks and 12 months following treatment.
  • The response of Gorlin syndrome lesions was compared to those in the overall sporadic population and then to a subpopulation matched as closely as possible for age, lesion thickness and site.
  • RESULTS: For both populations, the average pre-treatment BCC thickness by US was 1.5mm (overall range 0.3-5.3), and the average thickness at 4-6 weeks post-treatment was 0.5mm (overall range 0-4.3).
  • Those BCC less than 1.5mm thick prior to treatment were significantly more likely to have no US evidence of disease at 4-6 weeks than and were more likely to be controlled at 12 months.
  • CONCLUSIONS: The average response to ALA PDT of Gorlin syndrome-related BCC closely resembles that for the sporadic population, with the same wide range of responses for a given dose.

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  • (PMID = 25048674.001).
  • [ISSN] 1572-1000
  • [Journal-full-title] Photodiagnosis and photodynamic therapy
  • [ISO-abbreviation] Photodiagnosis Photodyn Ther
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
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95. Alcalay J, Ben-Amitai D, Alkalay R: Idiopathic basal cell carcinoma in children. J Drugs Dermatol; 2008 May;7(5):479-81
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  • [Title] Idiopathic basal cell carcinoma in children.
  • Basal cell carcinoma (BCC) is the most common nonmelanoma skin cancer in humans, and is the most common malignant neoplasm among adults in the US.
  • Childhood onset of BCC is rare and usually associated with genetic disorders such as basal cell nevus syndrome, Bazex syndrome, albinism, and xeroderma pigmentosum or due to radiation therapy.
  • A girl with idiopathic onset of BCC who was treated with Mohs micrographic surgery is reported.
  • A total of 108 children including this patient were reported with idiopathic de novo BCC.
  • Most of the tumors were nodular and located on the head, the same as in adults.
  • Basal cell carcinoma in children is probably the result of genetic background and intense ultraviolet radiation exposure.
  • [MeSH-major] Carcinoma, Basal Cell / pathology. Skin Neoplasms / pathology

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  • (PMID = 18505143.001).
  • [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
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96. Davari P, Hebert JL, Albertson DG, Huey B, Roy R, Mancianti ML, Horvai AE, McDaniel LD, Schultz RA, Epstein EH Jr: Loss of Blm enhances basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Ptch1+/- mice. Carcinogenesis; 2010 Jun;31(6):968-73
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  • [Title] Loss of Blm enhances basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Ptch1+/- mice.
  • Basal cell carcinomas (BCCs) have relative genomic stability and relatively benign clinical behavior but whether these two are related causally is unknown.
  • The mutant Blm alleles also markedly enhanced the formation of rhabdomyosarcomas (RMSs), another cancer to which Ptch1(+/)(-) mice and PTCH1(+/)(-) (basal cell nevus syndrome) patients are susceptible.
  • Despite the quantitative differences, there was no dramatic qualititative difference in the BCC or RMS tumors associated with the mutant Blm genotype.

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  • (PMID = 19995795.001).
  • [ISSN] 1460-2180
  • [Journal-full-title] Carcinogenesis
  • [ISO-abbreviation] Carcinogenesis
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA81888; United States / NCI NIH HHS / CA / CA84118
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] England
  • [Chemical-registry-number] EC 3.6.1.- / Bloom syndrome protein; EC 3.6.4.12 / RecQ Helicases
  • [Other-IDs] NLM/ PMC2878356
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97. Epstein EH, Shepard JA, Flotte TJ: Case records of the Massachusetts General Hospital. Case 3-2008. An 80-year-old woman with cutaneous basal-cell carcinomas and cysts of the jaws. N Engl J Med; 2008 Jan 24;358(4):393-401
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Case records of the Massachusetts General Hospital. Case 3-2008. An 80-year-old woman with cutaneous basal-cell carcinomas and cysts of the jaws.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Carcinoma, Basal Cell / pathology. Odontogenic Cysts / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Aged, 80 and over. Diagnosis, Differential. Female. Humans. Skull / radiography

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  • (PMID = 18216361.001).
  • [ISSN] 1533-4406
  • [Journal-full-title] The New England journal of medicine
  • [ISO-abbreviation] N. Engl. J. Med.
  • [Language] eng
  • [Publication-type] Case Reports; Clinical Conference; Journal Article
  • [Publication-country] United States
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98. Castori M, Castiglia D, Passarelli F, Paradisi M: Bazex-Dupré-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasms. Eur J Med Genet; 2009 Jul-Aug;52(4):250-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Bazex-Dupré-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasms.
  • Bazex-Dupré-Christol syndrome is a rare X-linked genodermatosis characterized by early-onset nonmelanoma skin cancers, atrophoderma follicularis, hypotrichosis, hypohidrosis, and multiple milia.
  • Our findings indicate that trichoepitheliomas are an early sign of Bazex-Dupré-Christol syndrome and may guide the diagnosis even before the development of basal cell carcinomas.
  • The high frequency of hypotrichosis, hypohidrosis and dry skin in Bazex-Dupré-Christol syndrome indicates that it may be better classified as an ectodermal dysplasia.
  • Comparison with other conditions combining features of ectodermal dysplasia and proneness to skin tumors suggests the involvement of a common pathogenic pathway implicated in both skin development and cancer.
  • [MeSH-major] Carcinoma, Basal Cell / genetics. Carcinoma, Basal Cell / pathology. Ectodermal Dysplasia / genetics. Skin Neoplasms / genetics. Skin Neoplasms / pathology
  • [MeSH-minor] Child, Preschool. Hair / pathology. Humans. Hyperpigmentation / diagnosis. Hyperpigmentation / pathology. Hypohidrosis / diagnosis. Hypohidrosis / physiopathology. Hypotrichosis / diagnosis. Hypotrichosis / pathology. Male


99. Omrani H, Hui Bon Hoa I, Bennis H, Lehmann M, Zerr V: [Recurrent ovarian fibromas in condition of Gorlin syndrome]. J Gynecol Obstet Biol Reprod (Paris); 2010 Nov;39(7):584-7
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  • [Title] [Recurrent ovarian fibromas in condition of Gorlin syndrome].
  • [Transliterated title] Fibromes ovariens récidivants dans le cadre du syndrome de Gorlin: à propos d'un cas.
  • Gorlin syndrome also known as basal cell nevus syndrome is a rare autosomal dominant condition with variable expression.
  • This syndrome is characterized by many anomalies of development and by the propensity of developing multiple neoplasms.
  • We report a case of a 20-years-old French patient who has relapsing ovarian bilateral fibromas in condition of Gorlin syndrome.
  • These fibromas are present in 25 % of Gorlin syndrome cases, which often are bilateral.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Fibroma / diagnosis. Ovarian Neoplasms / diagnosis

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  • [Copyright] Copyright © 2010 Elsevier Masson SAS. All rights reserved.
  • (PMID = 20599329.001).
  • [ISSN] 1773-0430
  • [Journal-full-title] Journal de gynécologie, obstétrique et biologie de la reproduction
  • [ISO-abbreviation] J Gynecol Obstet Biol Reprod (Paris)
  • [Language] fre
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] France
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100. Johnson H, Robles M, Kamino H, Walters RF, Lee A, Sanchez M: Trichoepithelioma. Dermatol Online J; 2008;14(10):5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The patient had a history of a brother with a similar phenotype, which suggests a diagnosis of familial trichoepithelioma.
  • Linkage and mutational analyses support genetic heterogeneity of familial trichoepithelioma, possibly sharing a clinical spectrum with Brooke-Spiegler syndrome and familial cylindromatosis since each entity has been associated with mutations the CYLD gene.
  • [MeSH-major] Facial Neoplasms / diagnosis. Neoplasms, Basal Cell / diagnosis. Neoplasms, Multiple Primary / diagnosis. Neoplastic Syndromes, Hereditary / diagnosis. Skin Neoplasms / diagnosis
  • [MeSH-minor] Adult. Carcinoma, Adenoid Cystic / genetics. Genes, Tumor Suppressor. Genetic Heterogeneity. Humans. Male. Phenotype. Tumor Suppressor Proteins / genetics. Tumor Suppressor Proteins / physiology

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  • (PMID = 19061604.001).
  • [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
  • [Chemical-registry-number] 0 / CYLD protein, human; 0 / Tumor Suppressor Proteins
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