PMID: 16508594Mar 2, 2006Paper

Clinical and genetic study in 22 patients with basal cell nevus syndrome

Annales de dermatologie et de vénéréologie
C Pruvost-BallandM-F Avril

Abstract

Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder characterized by developmental abnormalities and cancer predisposition. The PTCH 1 gene, the human homolog of the Drosophila segment polarity gene patched, has been shown to be involved in the development of nevoid basal cell carcinoma syndrome. PTCH 1 is mapped to chromosome 9q22.3. The aim of the present study was to report on clinical and genetic characteristics in patients followed for nevoid basal cell carcinoma syndrome and to compare them to the data in the literature. Screening for PTCH 1 mutations was done in 22 patients followed between 1981 and 2003 for clinical suspicion of nevoid basal cell carcinoma syndrome. Clinical and radiological data were reviewed retrospectively from records. Genetic analysis was performed using blood samples after patient informed consent was obtained. When possible, DNA was also analyzed from the parents of patients in whom PTCH 1 mutations were found. All patients had developed basal cell carcinomas: 45% palmar and plantar pitting, 62% jaw cysts and 66% calcification of falx cerebri. Medulloblastomas and meningiomas were the most common associated tumors. PTCH 1 mutations were identified in 13 patients: 6 familial cas...Continue Reading

Citations

Nov 27, 2008·Orphanet Journal of Rare Diseases·Lorenzo Lo Muzio
Feb 10, 2011·European Journal of Human Genetics : EJHG·Lorenzo Lo MuzioGiovanna Bianchi Scarra
Jun 30, 2012·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·Fadi TitinchiLeon Janse van Rensburg
Jan 31, 2013·European Journal of Human Genetics : EJHG·Lorenzo Lo MuzioGiovanna Bianchi Scarra
Jun 4, 2013·Dermatologic Surgery : Official Publication for American Society for Dermatologic Surgery [et Al.]·Charlene LamElizabeth M Billingsley
Aug 14, 2012·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·Yasuyuki ShimadaKen Omura
Nov 1, 2014·Maxillofacial Plastic and Reconstructive Surgery·Eun-Joo JungSeung-O Ko
May 12, 2010·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·Ataollah Habibi, Hamid Jafarzadeh
May 31, 2008·The British Journal of Dermatology·F BrellierT Magnaldo
Aug 13, 2011·American Journal of Medical Genetics. Part a·Wynnis L TomAlanna F Bree
Jul 22, 2014·Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry·Viviane Santos da Silva PierroLucianne Cople Maia
May 27, 2008·Journal of Dental Research·L-S SunT-J Li
Jan 19, 2021·Journal of Oral and Maxillofacial Pathology : JOMFP·Shikha SaxenaBharat Sankhla

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