Gorlin syndrome

Gorlin syndrome, also called naevoid basal cell carcinoma syndrome, is a rare inherited condition that predisposes people to develop multiple basal cell skin cancers from a young age, along with other features such as jaw cysts and skeletal abnormalities. It is caused by a mutation affecting a specific cell-signalling pathway. Lifelong specialist skin surveillance is a central part of management.

It is caused by mutations in genes, most commonly PTCH1, that control the hedgehog signalling pathway important in regulating cell growth. It is inherited in an autosomal dominant pattern, meaning a single altered gene copy from one parent is enough to cause the condition. Some cases arise from a new mutation with no family history.

Key features include multiple basal cell carcinomas developing from a young age, jaw cysts that can cause swelling or affect teeth, skeletal abnormalities such as rib anomalies, and characteristic facial features. Some people also have calcification within the brain and a slightly increased risk of certain childhood brain tumours. Not everyone with the condition has every feature, and severity varies between individuals and families.

Yes, the tendency to develop multiple skin cancers over a lifetime, along with other tumour risks, means Gorlin syndrome requires ongoing specialist surveillance and active management. With regular skin checks and early treatment of new skin cancers, most complications can be managed effectively. The jaw cysts and skeletal features are usually manageable with dental and orthopaedic input as needed.

Yes, it is an autosomal dominant genetic condition, meaning each child of an affected parent has a 50% chance of inheriting the gene change. Genetic testing can confirm the diagnosis and inform family planning and screening for relatives. Around a fifth of cases occur from a new mutation without a family history.

Management involves regular dermatology surveillance to catch and treat new basal cell carcinomas early, often using surgery, topical treatments, or other targeted therapies, alongside strict sun protection. Dental and maxillofacial monitoring addresses jaw cysts, and other specialists may be involved depending on individual features. A coordinated multidisciplinary team approach is typical given the range of possible manifestations.

There is no cure for the underlying genetic condition, but the associated skin cancers and other features can be effectively managed and treated as they arise. Newer targeted medications that block the hedgehog pathway are available for people with a high burden of skin cancers. Lifelong surveillance remains important even when current features are well controlled.

Sporadic basal cell carcinoma typically occurs as a single lesion later in life, often related to cumulative sun exposure, whereas Gorlin syndrome causes multiple basal cell carcinomas starting at a much younger age, often in areas not typically sun-exposed. The presence of other features, such as jaw cysts or a strong family history, points towards Gorlin syndrome. Genetic testing can confirm the diagnosis when the syndrome is suspected.

Regular, often annual or more frequent, full-body skin checks by a dermatologist are central to long-term management, alongside periodic dental and other specialist reviews depending on individual features. Any new or changing skin lesion should be reviewed promptly rather than waiting for the next scheduled check. Genetic counselling is also usually offered to help family members understand their own risk.

See a doctor if you or a family member has developed multiple basal cell skin cancers at a young age, or if there is a known family history of Gorlin syndrome. A private dermatology or genetics referral for assessment and possible genetic testing can typically be arranged within about two weeks. Early diagnosis allows surveillance to start sooner, catching new skin cancers while they are small and easy to treat.