Nevoid basal-cell carcinoma syndrome

Nevoid basal-cell carcinoma syndrome (pronunciation: nē-ˈvoid bā-səl-ˌsel kär-sə-ˈnō-mə sin-ˈdrōm), also known as Gorlin syndrome, is a rare genetic disorder that primarily affects the skin, nervous system, and bones. The syndrome is characterized by the development of multiple basal-cell carcinomas (BCCs), odontogenic keratocysts, and skeletal abnormalities.

Etymology

The term "nevoid" is derived from the Greek word "nevi", meaning "birthmark" or "mole", and "oid", meaning "resembling". The term "basal-cell carcinoma" refers to the type of skin cancer that commonly occurs in this syndrome. The syndrome is named after Robert James Gorlin, the American oral pathologist who first described it in 1960.

Symptoms and Signs

The most common symptoms of Nevoid basal-cell carcinoma syndrome include:

Multiple basal-cell carcinomas, often appearing in childhood or early adulthood.
Odontogenic keratocysts in the jaw, which can cause swelling and pain.
Skeletal abnormalities such as bifid ribs, scoliosis, and other deformities.
Calcification of the falx cerebri, a membrane in the brain.
Cleft palate or other facial abnormalities.

Diagnosis

Diagnosis of Nevoid basal-cell carcinoma syndrome is based on clinical findings, family history, and genetic testing. The syndrome is caused by mutations in the PTCH1 gene.

Treatment

Treatment for Nevoid basal-cell carcinoma syndrome is focused on managing the symptoms and preventing complications. This may include surgery to remove basal-cell carcinomas and odontogenic keratocysts, as well as treatments for skeletal abnormalities.

External links

Medical encyclopedia article on Nevoid basal-cell carcinoma syndrome
Wikipedia's article - Nevoid basal-cell carcinoma syndrome

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Nevoid basal-cell carcinoma syndrome