Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome)
An inherited tendency to many basal cell skin cancers
Quick Facts
- Type: Rare inherited (genetic) disorder
- Main feature: Multiple basal cell skin cancers
- Other features: Jaw cysts, distinctive facial features
- Inheritance: Autosomal dominant
Overview
Gorlin syndrome, also called nevoid basal cell carcinoma syndrome, is a rare inherited condition that affects many parts of the body. Its most well-known feature is a strong tendency to develop basal cell carcinomas, the most common type of skin cancer, often beginning at a younger age and in much greater numbers than usual.
People with Gorlin syndrome may also develop cysts in the jaw, characteristic facial and skeletal features, and, less commonly, other tumors. The condition is caused by a change in a gene that normally helps control cell growth. Because affected individuals are especially sensitive to radiation, careful protection from sun and unnecessary X-rays is an important part of care.
Symptoms
Features vary from person to person and tend to appear at different ages:
- Basal cell carcinomas: Numerous skin cancers, often on sun-exposed areas, frequently starting in the teens or twenties.
- Jaw cysts (keratocysts): Fluid-filled cysts in the jaw that can cause swelling, pain, or tooth problems.
- Pits on the palms and soles: Small depressions in the skin of the hands and feet.
- Distinctive features: A larger head, broad forehead, and widely spaced eyes.
- Skeletal differences: Rib and spine variations.
A small number of children with the syndrome develop a brain tumor called medulloblastoma, which is why young children are monitored.
Causes
Gorlin syndrome is caused by a change in a gene that helps regulate cell growth and acts to suppress tumors. When this gene does not work properly, cells in certain tissues are more likely to grow uncontrollably, leading to skin cancers and cysts.
The condition is inherited in an autosomal dominant pattern, meaning a single changed copy of the gene is enough to cause it, and an affected parent has a 50 percent chance of passing it to each child. Some cases arise from a new gene change with no family history.
Risk Factors
- Having a parent with Gorlin syndrome
- An inherited or new change in the responsible gene
- Sun exposure and radiation, which increase basal cell cancer development in affected people
Diagnosis
Diagnosis is based on a combination of features and testing:
- Clinical criteria: The pattern of multiple basal cell carcinomas, jaw cysts, palm and sole pits, and characteristic features.
- Imaging: X-rays or scans to find jaw cysts and skeletal differences.
- Genetic testing: Identifying the gene change confirms the diagnosis and helps assess family members.
Treatment
There is no cure, so care focuses on monitoring and treating the features as they arise:
- Skin cancer treatment: Removing basal cell carcinomas with surgery or other skin-directed treatments; targeted medicines may be used for extensive disease.
- Jaw cyst removal: Surgery by an oral or maxillofacial specialist, with monitoring for recurrence.
- Regular skin and dental check-ups to catch new cancers and cysts early.
- Avoiding unnecessary radiation: Limiting X-rays and using sun protection, because radiation can trigger more skin cancers.
Genetic counseling helps families understand inheritance and screening.
Prevention
The syndrome itself cannot be prevented, but complications can be reduced:
- Protect skin from the sun with clothing, shade, and sunscreen
- Avoid tanning beds entirely
- Limit unnecessary X-rays and radiation
- Attend regular skin and dental examinations for early detection
- Consider genetic counseling for family planning
When to See a Doctor
See a doctor if you or a family member develop multiple basal cell skin cancers at a young age, recurring jaw cysts, or a combination of the syndrome's features, especially with a family history. People with a diagnosis should have regular skin and dental follow-up, and any new, changing, or non-healing skin lesion should be evaluated promptly.
Frequently Asked Questions
What is Gorlin syndrome?
Gorlin syndrome is a rare inherited condition that causes many basal cell skin cancers, jaw cysts, and distinctive physical features. It results from a change in a gene that normally helps control cell growth.
Why are people with Gorlin syndrome told to avoid X-rays?
Affected people are especially sensitive to radiation, which can trigger more basal cell skin cancers, particularly in treated areas. For this reason, unnecessary X-rays and radiation are limited and sun protection is emphasized.
Is Gorlin syndrome inherited?
Yes. It is inherited in an autosomal dominant pattern, so a single changed copy of the gene causes it, and an affected parent has a 50 percent chance of passing it to each child. Some cases arise from a new gene change.
Can the skin cancers in Gorlin syndrome be treated?
Yes. Individual basal cell carcinomas are removed with surgery or other skin treatments, and targeted medicines may help when there are many. Regular skin checks allow new cancers to be caught and treated early.
How is Gorlin syndrome diagnosed?
Diagnosis is based on the combination of features such as multiple basal cell cancers, jaw cysts, and palm and sole pits, supported by imaging and confirmed with genetic testing.
References
- Genetic and Rare Diseases Information Center (GARD). Nevoid basal cell carcinoma syndrome.
- MedlinePlus Genetics, U.S. National Library of Medicine. Nevoid basal cell carcinoma syndrome.
- National Organization for Rare Disorders (NORD). Gorlin Syndrome.