Can you tell me something about Gorlin syndrome?

Gorlin syndrome is a rare condition, also known as naevoid basal cell carcinoma syndrome, NBCCS.

It is caused by a faulty gene that can be passed on from one generation to the next, so runs in families. But, the gene fault (mutation) can also occur in people with no family history of the condition.

Gorlin syndrome is associated with a number of medical problems. These may include:

• skin problems (including skin cysts, skin tags, and skin cancers called basal cell carcinomas)
• cysts in the jaw
• abnormalities of the bones
• non cancerous (benign) ovarian tumours called ovarian fibromas
• increased risk of a type of brain tumour called medulloblastoma.

Most people with Gorlin syndrome develop some but not all of these problems. The condition varies greatly from person to person, so each person's treatment is worked out individually.

Skin cancers are common in people with Gorlin syndrome. These skin cancers are usually basal cell carcinomas (BCCs), sometimes called rodent ulcers. This type of skin cancer usually only affects older people, but in Gorlin syndrome younger adults and even children can be affected.

The cancers tend to appear on the face, neck or upper body and are slow growing. It is very rare for the cancer to spread to parts of the body other than the skin. The more fair skinned you are and the more you are out in the sun the greater your risk, but anyone with Gorlin syndrome can be affected. So, if you have Gorlin syndrome it's vital to protect your skin from the sun. This helps to reduce your risk of skin cancers developing although it doesn't stop them altogether.

The best treatment for basal cell carcinomas depends on a number of factors. These include:

• your age and general health
• where the BCCs are on your body
• the size and depth of the cancer.

The aim of treatment is to cure the cancer while doing the least possible damage to normal skin.

Radiotherapy is not usually used in Gorlin syndrome, because it can cause lots of new BCCs to develop in the skin that has been irradiated.

Reference

• Gorlin, J. Nevoid basal cell carcinoma (Gorlin) syndrome. Genetics in medicine 2004 6(6) 530-535