Gorlin syndrome
Gorlin syndrome is a rare condition. Many people with Gorlin syndrome develop a type of skin cancer called basal cell cancer of the skin. They can also have a number of other medical conditions.
Gorlin syndrome is also called naevoid basal cell carcinoma syndrome (NBCCS). You might also see it written as Gorlin’s syndrome.
About Gorlin syndrome
Gorlin syndrome is also called naevoid basal cell carcinoma syndrome. Around 80 out of every 100 people (around 80%) with the syndrome develop multiple
.
The cancers usually start to develop around the age of 30. But they can develop in younger people.
People who have Gorlin syndrome can also have a number of different medical conditions including:
- skin problems, such as skin tags and skin cysts
- cysts on the jaw that usually develop during the teenage years
- changes in the bones, they may be longer and larger than usual
- pits on the palms of the hands and soles of the feet
- non cancerous (benign) tumours of the ovary
- non cancerous (benign) tumours of the heart (cardiac fibromas)
- a type of brain tumour called medulloblastoma
Is Gorlin syndrome inherited?
Between 70 and 80 out of every 100 people (between 70 and 80%) with Gorlin syndrome have someone else in their family with it and have inherited a genetic mutation from one of their parents.
Ask your doctor about genetic counselling. It may be possible for family members to be tested to see if they carry the faulty gene.
Small risk of developing medulloblastoma
Medulloblastoma 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 (about 5%) who have Gorlin syndrome. Only a few children who have medulloblastoma also have Gorlin syndrome.
Although people with Gorlin syndrome have an increased risk of developing medulloblastoma, this risk is small.
Treatment for children with a medulloblastoma and Gorlin syndrome would be the same for other children diagnosed with medulloblastoma.
Treatment for basal cell skin cancers
People with Gorlin syndrome need regular skin checks by a skin specialist (a dermatologist).
The skin checks are usually between 6 to 12 months but may be more often. If you notice any changes on your skin between appointments, you should tell your doctor.
Basal cell skin cancers usually grow very slowly. It's rare for basal cell skin cancer to spread to another body part.
The main treatment for basal cell skin cancer is surgery, but you might have other treatments.
Surgery
For a small basal cell skin cancer, your doctor usually removes the affected area and a small amount of the surrounding healthy tissue. For a bigger basal cell skin cancer, you have a larger area of skin removed and may need a skin graft.
Other treatments may include:
- imiquimod cream
- chemotherapy, usually a chemotherapy cream such as fluorouracil (5-FU) cream
- photodynamic therapy
- cryosurgery
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.
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.
The Gorlin Syndrome Group has detailed information on its website and offers support to people affected by Gorlin syndrome.
