Medically reviewed by Dr. A.M. van Coevorden, dermatologist
Gorlin syndromea rare hereditary condition with many basal cell carcinomas at a young age
Gorlin syndrome, also called basal cell nevus syndrome, is a rare hereditary condition that raises the risk of tumours. Characteristic are many basal cell carcinomas that develop at a young age, plus cysts in the jaws and other abnormalities. It cannot be cured, but the basal cell carcinomas can usually be treated well.
What is Gorlin syndrome?
Gorlin syndrome is a rare hereditary condition that raises the risk of developing tumours. It can be recognised by skin abnormalities and abnormalities in some organs. Skin cancer in the form of small spots that resemble moles, and cysts in the jaws, are the most common abnormalities. It often appears from a young age, mainly between ten and fifteen. It cannot be cured, but can be treated well. Another name is basal cell nevus syndrome.
How do you get Gorlin syndrome?
Gorlin syndrome is autosomal dominant hereditary: you inherit the faulty gene from one parent. This gene is called the patched homolog gene (PTCH). Changes in another gene may also play a role.
What does it look like?
People with Gorlin syndrome develop many basal cell carcinomas, a form of skin cancer that is generally treatable. In Gorlin syndrome they differ in age and appearance from ordinary basal cell carcinomas: they appear from the age of ten to fifteen and at first resemble small moles, usually on the neck, throat, face or shoulders. Later they look more like ordinary basal cell carcinomas, and after puberty they increase in number. About 10% of people with the syndrome develop no basal cell carcinomas. Other abnormalities are pits in the palms or soles, benign skin growths, cysts (especially in the jaw), broadened ribs, a characteristic face and sometimes abnormalities of the eyes, brain or skeleton; not everyone has all of them.
Is Gorlin syndrome contagious?
No. Gorlin syndrome is not contagious.
How is the diagnosis made?
Because the abnormalities need not be clear at first, the diagnosis is often difficult. On suspicion the GP refers you or your child to a dermatologist or paediatrician. In case of doubt, genetic testing is done.
What treatments are there?
The basal cell carcinomas are treated much like ordinary ones, with one exception: radiotherapy is avoided, because new basal cell carcinomas can form in the irradiated area. The principles are complete (radical) removal and the best possible cosmetic result. Options are surgical removal (excision), photodynamic therapy and cryosurgery for superficial forms, curettage and coagulation, and Mohs' micrographic surgery for an unfavourable type or a recurrence. Imiquimod cream and fluorouracil cream are also used for superficial basal cell carcinomas. Vismodegib, a so-called Hedgehog inhibitor, slows their growth; it is a new drug with substantial side effects that causes birth defects in pregnancy during and up to two years after treatment.
Can Gorlin syndrome be cured?
Gorlin syndrome cannot be cured, but the basal cell carcinomas can usually be treated well and the chance of spread is small, so almost no one dies of this form of skin cancer. Because the growths grow slowly and can return after removal, treatment does become more extensive over time. That is why it is important to keep a close eye on your skin after treatment too. Children with the syndrome are monitored by a neurologist until age seven for rare brain abnormalities, and from age eight yearly X-rays can be taken to detect jaw cysts.
What can you do yourself?
After removal, watch for signs that a carcinoma is not fully gone or is returning, and for new basal cell carcinomas elsewhere; contact the dermatologist in those cases. Protect yourself well from the sun, as sun and sunbeds raise the risk. Because children of someone with Gorlin syndrome have a high chance of having it too, it is important to have them checked by a paediatrician and dermatologist.
Frequently asked questions about Gorlin syndrome
Is Gorlin syndrome hereditary?
Yes. It is autosomal dominant: you inherit the faulty gene (PTCH) from one parent, and children have a high chance of having it too.
What is the main feature?
Many basal cell carcinomas developing at a young age, from ten to fifteen, plus often cysts in the jaws.
Why no radiotherapy?
Because in people with Gorlin syndrome new basal cell carcinomas can form in the irradiated area. Other treatments are chosen instead.
Can it be cured?
The syndrome itself cannot, but the basal cell carcinomas can usually be treated well and the chance of spread is small.
Should my children be checked?
Yes. Because they have a high chance of having the syndrome too, checks by a paediatrician and dermatologist are important.