Gorlin

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin-Goltz syndrome, is a rare genetic disorder that predisposes individuals to various developmental abnormalities and an increased risk of developing certain types of cancer, particularly basal cell carcinoma. The syndrome is named after Dr. Robert J. Gorlin, who first described it in 1960.

Genetics

Gorlin syndrome is typically inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The condition is most commonly associated with mutations in the PTCH1 gene, which is a part of the Hedgehog signaling pathway. Mutations in the SUFU gene have also been implicated in some cases.

Clinical Features

Individuals with Gorlin syndrome may exhibit a wide range of symptoms, including:

• Multiple basal cell carcinomas at a young age
• Keratocystic odontogenic tumors (jaw cysts)
• Palmar and plantar pits
• Skeletal abnormalities such as bifid ribs and scoliosis
• Calcification of the falx cerebri
• Medulloblastoma (a type of brain tumor) in children

Diagnosis

Diagnosis of Gorlin syndrome is based on clinical criteria and genetic testing. Major criteria include the presence of multiple basal cell carcinomas, jaw cysts, and palmar or plantar pits. Genetic testing can confirm mutations in the PTCH1 or SUFU genes.

Management

Management of Gorlin syndrome involves regular monitoring for the development of basal cell carcinomas and other associated tumors. Treatment may include surgical removal of tumors, radiation therapy, and the use of hedgehog pathway inhibitors such as vismodegib.

Prognosis

The prognosis for individuals with Gorlin syndrome varies depending on the severity of symptoms and the effectiveness of treatment. Early detection and management of basal cell carcinomas and other tumors are crucial for improving outcomes.

Related Pages

• Basal cell carcinoma
• Hedgehog signaling pathway
• Autosomal dominant
• PTCH1
• SUFU
• Medulloblastoma