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 most commonly associated with Gorlin syndrome is the PTCH1 gene located on chromosome 9. Mutations in this gene lead to the development of the various symptoms associated with the syndrome.

Symptoms and Signs

The clinical manifestations of Gorlin syndrome can vary widely among affected individuals. Key features include:

• Development of multiple basal cell carcinomas, often at a young age
• Jaw cysts, known as odontogenic keratocysts, which can cause swelling and displacement of teeth
• Palmar or plantar pits, which are small depressions on the palms of the hands or soles of the feet
• Calcification of the falx cerebri, a structure within the brain
• Skeletal abnormalities such as bifid ribs or Sprengel deformity
• A higher risk of developing other types of tumors, including medulloblastoma, a type of brain tumor, in childhood

Diagnosis

Diagnosis of Gorlin syndrome is based on clinical examination and the presence of two major criteria or one major and two minor criteria. Major criteria include:

• More than two basal cell carcinomas or one occurring under the age of 30
• Odontogenic keratocysts of the jaw
• Three or more palmar or plantar pits
• Bifid, fused, or markedly splayed ribs
• Calcification of the falx cerebri by the age of 30
• First-degree relative with Gorlin syndrome

Minor criteria include other skeletal abnormalities, macrocephaly, and congenital malformations among others. Genetic testing for mutations in the PTCH1 gene can confirm the diagnosis.

Treatment

There is no cure for Gorlin syndrome, but treatments are available to manage the symptoms. Management strategies include:

• Regular skin examinations to monitor and treat basal cell carcinomas promptly
• Surgical removal of jaw cysts
• Use of retinoids, which may reduce the number of new basal cell carcinomas
• Radiation therapy is generally avoided as it may exacerbate the condition

Prognosis

The prognosis for individuals with Gorlin syndrome varies depending on the number and severity of symptoms. With careful management, most individuals can lead normal lives, although they may require frequent medical appointments to monitor and treat the various aspects of the syndrome.

Epidemiology

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