Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome – case report
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چکیده
منابع مشابه
Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome – case report
Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, keratocystic odontogenic tumors of the jaws, and diverse developmental defects. This disorder is associated with mutations in tumor suppressor gene Patched 1 (PTCH1). We present two patients with Gorlin syndrome, one sporadic and one familial. Clinical ex...
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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The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), pits of the palms and soles, jaw keratocysts, a variety of other tumors, and developmental abnormalities. NBCCS maps to chromosome 9q22.3. Familial and sporadic BCCs display loss of heterozygosity in this region, consistent with the gene being a tumor suppre...
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...
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ژورنال
عنوان ژورنال: Croatian Medical Journal
سال: 2015
ISSN: 0353-9504,1332-8166
DOI: 10.3325/cmj.2015.56.63