Gorlin Syndrome

Gorlin Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome (NBCCS), is a rare genetic disorder characterized by the development of multiple basal cell carcinomas (BCCs), odontogenic keratocysts in the jaw, and a variety of other physical abnormalities. This condition is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. The gene associated with Gorlin Syndrome is the PTCH1 gene, located on chromosome 9q22.3. Mutations in this gene lead to the development of the syndrome's characteristic features.

Symptoms and Characteristics

Gorlin Syndrome presents a wide range of clinical manifestations. The most common include:

• Basal Cell Carcinomas: Individuals with Gorlin Syndrome typically develop numerous basal cell carcinomas over their lifetime. These skin cancers usually appear in adolescence or early adulthood but can occur at any age.
• Odontogenic Keratocysts: These are cysts that occur in the jaw and can cause swelling or displacement of teeth. They often recur after removal.
• Palmar or Plantar Pits: Small pits in the palms of the hands and soles of the feet.
• Calcification of the Falx Cerebri: An abnormal calcification of the brain, which does not usually cause symptoms.
• Skeletal Abnormalities: These can include rib anomalies, scoliosis, and other bone deformities.
• Macrocephaly: An abnormally large head size, often with a prominent forehead.

Other features may include eye abnormalities, such as cataracts, developmental disabilities, and an increased risk of developing other types of tumors, including medulloblastoma, a type of brain tumor.

Diagnosis

Diagnosis of Gorlin Syndrome is based on clinical examination and the presence of characteristic features. Genetic testing for mutations in the PTCH1 gene can confirm the diagnosis. Diagnostic criteria have been established, requiring the presence of two major criteria or one major and two minor criteria for a diagnosis.

Treatment

There is no cure for Gorlin Syndrome, but treatment is available for the management of symptoms and prevention of new basal cell carcinomas. Management strategies include:

• Regular skin examinations to detect and treat basal cell carcinomas early.
• Surgical removal of basal cell carcinomas and odontogenic keratocysts.
• Use of retinoids, which may reduce the number of new basal cell carcinomas.
• Avoidance of sunlight and use of sunscreen to reduce the risk of skin cancers.
• Monitoring for the development of other tumors and treating them as necessary.

Genetics

Gorlin Syndrome is caused by mutations in the PTCH1 gene, which plays a key role in the Hedgehog signaling pathway, a pathway involved in the regulation of cell growth and development. Mutations in this gene lead to the uncontrolled cell growth characteristic of the syndrome.

Epidemiology

Gorlin Syndrome is a rare condition, with an estimated prevalence of 1 in 31,000 to 1 in 256,000 people worldwide. It affects males and females equally.

See Also

• Basal Cell Carcinoma
• Odontogenic Tumor
• Genetic Disorders
• Skin Cancer