Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions
نویسندگان
چکیده
منابع مشابه
[Gorlin syndrome (nevoid basal cell carcinoma syndrome)].
CLINICAL CASE A 77 year-old male patient with Parkinson's disease and senile dementia had many facial basal cell carcinomas and an ectropion of the left eye. When he experienced respiratory difficulty he was diagnosed to have an ameloblastoma in left nostril requiring surgery. DISCUSSION Gorlin syndrome is an autosomal dominant condition characterized by basal cell carcinomas, and skeletal an...
متن کاملNevoid basal cell carcinoma syndrome (Gorlin syndrome)
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of...
متن کاملBasal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment
Address for correspondence: Prof. Henryk Witmanowski MD, PhD, Department of Plastic, Reconstructive and Aesthetic Surgery, Medical College, Nicolaus Copernicus University, 9-11 M. Skłodowska-Curie St, 85-094 Bydgoszcz, phone: +48 52 585 4017, email: [email protected] Received: 21.06.2016, accepted: 2.08.2016. Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture...
متن کاملMetastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome
Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorli...
متن کاملMutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation.
The nevoid basal cell carcinoma (Gorlin) syndrome (NBCCS) is an autosomal dominant disorder characterized by multiple developmental defects and cancer susceptibility, in particular to basal cell carcinoma. The human homologue of Drosophila patched (PTCH) was recently identified, mapped to the NBCCS locus on chromosome 9q22.3, and found mutated in patients with NBCCS and also in sporadic basal c...
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ژورنال
عنوان ژورنال: Korean Journal of Pediatrics
سال: 2007
ISSN: 1738-1061
DOI: 10.3345/kjp.2007.50.8.789