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14 July 2009
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Genes

Gorlin syndrome

Dr Trisha Macnair

Gorlin syndrome is an inherited condition that affects one in 55,600 of the UK population. We look at causes, treatments, and where to go for support.


What is it?

Gorlin syndrome - also known as nevoid basal cell carcinoma syndrome - causes a variety of problems, mostly affecting the skin and connective tissues. People with the syndrome have a predisposition to multiple basal cell carcinomas (a form of skin cancer), jaw cysts and other generally harmless abnormalities in the bone. The severity of the disease can be wide-ranging.

Causes

Gorlin syndrome is an autosomal dominant condition. The abnormal gene is found on chromosome 9. New mutations (where neither parent carries the gene) are common.

Treatment

Although there's no cure, the carcinomas can be treated by surgery, lasers or photodynamic therapy, which reduces scarring.

If there's a family history of the syndrome, it's possible for family members to be tested to see if they carry the faulty gene.

Those with Gorlin syndrome are now advised to avoid - or to take advice before undergoing - any radiation treatment, as it's thought it may exacerbate the condition.

Organisations

Gorlin Syndrome Group
Tel: 01772 496849
Email: info@gorlingroup.org
Website: www.gorlingroup.org

Contact a Family
Tel: 0808 808 3555
Website: www.cafamily.org.uk

This article was last medically reviewed by Dr Rob Hicks in April 2008


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Elsewhere on bbc.co.uk

Science: the human body

Elsewhere on the web

Gorlin Syndrome Group
Contact a Family
NHS Choices: self-help guide
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