Gorlin Syndrome
Description
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic disorder characterized by a predisposition to develop multiple basal cell carcinomas (BCCs), a type of skin cancer, along with other developmental abnormalities. This comprehensive blog will delve into the intricacies of Gorlin syndrome, providing insights into its causes, symptoms, diagnosis, management, and the potential for thriving with this condition.
Genes Involved
Gorlin syndrome is caused by mutations in the PTCH1 gene. This gene provides instructions for making a protein that helps regulate cell growth. Mutations in PTCH1 disrupt this regulation, leading to the development of the characteristic features of Gorlin syndrome.
Recognizing the Signs and Symptoms
Gorlin syndrome presents with a wide range of symptoms, including:
- Multiple Basal Cell Carcinomas (BCCs): These are the most common skin cancers in people with Gorlin syndrome, often appearing at a young age.
- Odontogenic Keratocysts (OKCs): These are non-cancerous, fluid-filled cysts that develop in the jawbone, often causing jaw pain, swelling, and tooth displacement.
- Bifid Rib: A split or forked rib is a common skeletal abnormality.
- Palmar and Plantar Pits: Small, dimple-like depressions on the palms of the hands and soles of the feet.
- Macrocephaly: An abnormally large head circumference.
- Other Features: These may include a wide forehead, a prominent nose, a broad nasal bridge, and a gap between the teeth (diastema).
The severity of symptoms can vary greatly from person to person. Some individuals may only experience mild symptoms, while others may have more severe manifestations.
Causes
Gorlin syndrome is an inherited genetic disorder. A mutation in the PTCH1 gene, located on chromosome 9, is responsible for this condition. The mutation can be inherited from one or both parents, or it may occur spontaneously (de novo).
Inheritance/recurrence risk
Gorlin syndrome is typically inherited in an autosomal dominant pattern. This means that if one parent has the mutated gene, there is a 50% chance that each child will inherit the gene and develop the condition. It‘s also possible for a spontaneous mutation to occur in the PTCH1 gene, which can lead to Gorlin syndrome in an individual without a family history of the condition.
