A familial case of nevoid basal cell carcinoma syndrome with a frameshift mutation in the PTCH1 gene
نویسندگان
چکیده
منابع مشابه
Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.
Gorlin-Goltz syndrome, or nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant disorder caused by mutations in the PTCH1 gene and shows a high level of penetrance and variable expressivity. The syndrome is characterized by developmental abnormalities or neoplasms and is diagnosed with 2 major criteria, or with 1 major and 2 minor criteria. Here, we report a new clinical ma...
متن کاملBiallelic disruption of the PTCH1 gene in multiple basal cell carcinomas in Japanese patients with nevoid basal cell carcinoma syndrome.
The aim of the present study is to address whether the molecular pathogenesis is identical among multiple basal cell carcinomas (BCCs) present in the same nevoid basal cell carcinoma syndrome (NBCCS) patient. Patient 1 is a 61-year-old (yo) Japanese female whose clinical characteristics and findings of a genetic analysis of PTCH1 have been previously described. Patient 2 is patient 1's 64-yo si...
متن کاملnevoid basal cell carcinoma syndrome: a case report
nevoid basal cell carcinoma syndrome (bcns) is an autosomal dominant inherited disorder. multiple organ systems may be affected in this syndrome including abnormalities of the skin, skeletal system, genitourinary system and central nevus system. in this report, we present a case of nevoid basal cell carcinoma syndrome in a 26-year-old male patient. the patient had multiple odontogenic keratocys...
متن کاملTreatment of nevoid basal cell carcinoma syndrome: a case report
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is characterized by various embryological deformities and carcinoma formation. It is caused by PTCHI gene mutations and is autosomal dominantly inherited. Some of the main symptoms of NBCCS are multiple basal cell carcinomas, multiple keratocystic odontogenic tumors (KCOTs) of the mandible, hyperkeratosis of the palmar...
متن کاملNevoid Basal Cell Carcinoma Syndrome: Report from the Zurich Nevoid Basal Cell Carcinoma Syndrome Cohort.
BACKGROUND Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz syndrome) presents various symptoms and can disfigure patients. The estimated prevalence is around 1:100,000. OBJECTIVE To systematically investigate the clinical manifestations of NBCCS patients of the Zurich register and compare them with those described in 4 epidemiological studies performed in other countries. METHODS ...
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ژورنال
عنوان ژورنال: Japanese Journal of Oral and Maxillofacial Surgery
سال: 2015
ISSN: 0021-5163,2186-1579
DOI: 10.5794/jjoms.61.429