Basal Cell Nevus Syndrome

Basal Cell Nevus Syndrome

Basal Cell Nevus Syndrome (BCNS), also known as Gorlin Syndrome, is a rare genetic disorder characterized by the development of multiple basal cell carcinomas, jaw cysts, and skeletal abnormalities. It is an autosomal dominant condition, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder.

Etiology

BCNS is primarily caused by mutations in the PTCH1 gene, which is a part of the Hedgehog signaling pathway. This pathway is crucial for normal embryonic development, and its disruption can lead to the formation of tumors and other abnormalities. In some cases, mutations in the SUFU gene have also been implicated.

Clinical Features

Individuals with BCNS typically present with:

• Multiple Basal Cell Carcinomas: These skin cancers often appear at a young age and can occur anywhere on the body, although they are most common on sun-exposed areas.
• Jaw Cysts: Also known as odontogenic keratocysts, these can cause swelling and discomfort and may lead to tooth displacement.
• Skeletal Abnormalities: These may include bifid ribs, scoliosis, and other bone deformities.
• Other Features: Patients may also have palmar or plantar pits, calcification of the falx cerebri, and an increased risk of developing other types of tumors, such as medulloblastoma.

Diagnosis

Diagnosis of BCNS is based on clinical criteria and genetic testing. The presence of multiple basal cell carcinomas, jaw cysts, and a family history of the syndrome can suggest the diagnosis. Genetic testing can confirm mutations in the PTCH1 or SUFU genes.

Management

Management of BCNS involves regular surveillance for skin cancers and other tumors, surgical removal of basal cell carcinomas, and treatment of jaw cysts. Genetic counseling is recommended for affected individuals and their families.

Prognosis

The prognosis for individuals with BCNS varies depending on the severity of the condition and the effectiveness of treatment. With regular monitoring and appropriate management, many individuals can lead relatively normal lives.

Also see

• Basal Cell Carcinoma
• Hedgehog Signaling Pathway
• Genetic Disorders
• Odontogenic Keratocyst

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