Gorlin syndrome is also called naevoid basal cell carcinoma syndrome (NBCCS). You may also see it written a Gorlin’s syndrome.
Gorlin syndrome is a rare condition in which many people develop a type of skin cancer called basal cell cancers of the skin. They might also have a number of other medical conditions.
How common is it
Gorlin syndrome affects about 1 in 31,000 people, although the true figure may be higher as mild cases can go unrecognised.
Between 70 and 80 out of every 100 people (70 to 80%) with Gorlin syndrome have someone else in their family with it, and have inherited a genetic mutation from one of their parents.
About Gorlin syndrome
Gorlin syndrome is also called naevoid basal cell carcinoma syndrome because about 90 out of every 100 people (90%) with the syndrome develop multiple basal cell cancers of the skin. The cancers usually start to develop around the age of 30.
People who have Gorlin syndrome can also have a number of different medical conditions including:
- skin problems – skin tags and skin cysts
- cysts on your jaw that usually develop during your teens
- medulloblastoma (PNET)
- changes in the bones – they may be longer and larger than usual
- pits on the palms of the hands and soles of the feet
- benign tumours of the ovary – these develop in 20 out of every 100 people (20%) with the syndrome
Small risk of developing PNET
Although people with Gorlin syndrome have an increased risk of developing medulloblastoma (PNET), this risk is small.
PNET is a type of brain tumour which usually affects children between the ages of 2 and 5. They develop in about 5 out of every 100 children (5%) who have Gorlin syndrome. Only a few children who have PNET also have Gorlin syndrome.
Treatment for children with a PNET and Gorlin syndrome would be the same for other children diagnosed with a PNET.
Treatment for basal cell skin cancers
Everyone with Gorlin syndrome needs regular skin checks by a dermatologist, a skin specialist.
The skin checks are usually yearly but may be more often. If you notice any changes on your skin between appointments, you should tell your doctor. Basal cell skin cancers grow very slowly and are unlikely to spread to any other part of the body.
The main treatment for basal cell skin cancer is surgery, but you might have:
- imiquimod cream
- chemotherapy – usually a chemotherapy cream
- photodynamic therapy
- retinoids - chemicals similar to vitamin A
Your treatment will be similar to anyone else who has skin cancer and is usually very successful.
However, people with Gorlin syndrome are very sensitive to radiation and radiotherapy can make skin cancers more likely to develop in the treatment area. So doctors don’t usually recommend radiotherapy.
The sun and Gorlin syndrome
As people with Gorlin syndrome have an increased risk of skin cancer, you need to take extra care in the sun. This is the same for anyone with Gorlin syndrome whether you have had a skin cancer or not.
So protect yourself from the sun by using a combination of shade, clothing and sunscreen.
Coping with Gorlin syndrome
You may feel overwhelmed when you hear that you have a condition that can increase your risk of developing medical problems.
It can help you to know that many of the conditions are manageable. For some of the conditions you won’t need any medical treatment. Even if you do need treatment, it is likely to work well, including the treatment for skin cancer.
It can be reassuring for you to know that people who have Gorlin syndrome usually live as long as people who don’t have the syndrome.
The Gorlin Syndrome Group have detailed information on their website and offer support to people affected by Gorlin syndrome.