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Gorlin syndrome

Also known as: Basal Cell Nevus syndrome, Nevoid Basal Cell Carcinoma syndrome, Gorlin-Goltz syndrome

Background

Gorlin syndrome is an inherited predisposition (increase in risk) to develop multiple basal cell carcinomas (localised skin cancers) and also to development of multiple cysts within the jaw. A cyst is a closed sac which may contain air, fluids or semi-solid material.

Credits

Last updated September 2014 by Dr Kai Ren Ong, Consultant in Clinical and Cancer Genetics, Birmingham Women's NHS Foundation Trust, Birmingham, UK.

Listen to more about this condition

Gorlin syndrome is an inherited predisposition to the development localised skin cancers. This podcast is an honest account from a parent who has a child with the condition. Click here to listen

The views expressed in this podcast are for information purposes only. The material is in no way intended to replace professional medical care or attention by a qualified practitioner. Condition symptoms may vary in type or severity amongst individuals. This podcast is to demonstrate the personal views and experience of this family only.

What are the symptoms?

The number of basal cell carcinomas and age of onset of both can vary greatly from member to member within an affected family. Harmless inherited abnormalities in bones (such as doubling of the ends of the ribs) are common. There is a tendency to lay down calcium deposits (also harmless) in other parts of the body which are identifiable on X-rays. Although not common, cleft lip and palate (see entry Cleft Lip and/or Palate), an extra finger, stiff thumbs, stiff great toes and eye problems are also part of the condition. People with Gorlin syndrome are often tall and have a larger head circumference than usual.

 

What are the causes?

Gorlin syndrome is caused by a change (mutation) in the PTCH1 gene (also known as PTCH), which is located on chromosome 9. Someone with Gorlin syndrome has a normal copy of the gene on one chromosome 9, but a copy of the altered gene on the other chromosome 9.

How is it diagnosed?

It may be possible to confirm the diagnosis on the basis of an examination by a doctor and X-rays. Testing of the PTCH1 gene is possible to identify the change in the gene.

It is important that people with Gorlin syndrome have regular screening of the skin and jaws so that the localised skin cancers and jaw cysts can be removed before they cause further problems.

How is it treated?

It is strongly recommended that the skin cancers are not treated by radiotherapy because this can be associated with the appearance of multiple new skin cancers in the treated area. Other treatments such as surgery, cryotherapy (freezing), photodynamic (light) therapy, and certain medications can be used and are very effective. Jaw cysts are treated using surgery.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
For some affected by the condition, it is transmitted in an autosomal dominant manner inherited from a parent. In other families, where there is just one affected person, the affected person's condition is caused by a sporadic change occurring for the first time in the PTCH1 gene (a new mutation that occurs by chance). That person's children would be at risk of inheriting it in an autosomal dominant manner.

Prenatal diagnosis
When the change in the PTCH1 gene has been identified in an affected a family, molecular testing (testing DNA) of cells obtained from the mother during pregnancy either via amniocentesis or chorionic villus sampling will identify the changed PTCH1 gene.

Is there support?

Gorlin Syndrome Group

Tel: 01772 496849
Email: info@gorlingroup.org
www.gorlingroup.org

The Gorlin Syndrome Group is a Registered Charity in England and Wales No. 1096361; established in 1992. It is a support network offering guidance and information to patients; their families and carers whose lives are affected by Gorlin Syndrome. The Group is organised by patients affected by Gorlin Syndrome and their families; with support from medical advisers.

Group details last updated July 2015.