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Gorlin syndrome

Gorlin syndrome is also known as Gorlin-Goltz syndrome, Gorlin's syndrome, nevoid basal cell carcinoma syndrome, and basal cell naevus syndrome. The so-called basal cell naevi are actually tiny basal cell carcinomas.

What is Gorlin syndrome?

Gorlin's syndrome is a rare inherited condition characterised by:

Developmental abnormalities in affected individuals may include:

Gorlin syndrome
Numerous basal cell carcinomas
Gorlin syndrome
Multiple scars from cryotherapy
Gorlin syndrome
Palmar pits
Gorlin's syndrome

What is the cause of Gorlin's syndrome?

Gorlin's syndrome is due to an abnormal PTCH (patched) gene on chromosome 9q22.3-q31. This gene normally functions as a tumour suppressor so when it is not working properly it may allow cancers to grow.

Gorlin's syndrome is an autosomal dominant condition meaning half of an affected person's children also have the syndrome. It affects one in every 50 to 100,000 people.

Recent research is studying how the genetics of basal cell carcinoma may lead to effective treatments in the future.

How is the diagnosis made?

A diagnosis of Gorlin's syndrome can be made if there are 2 major or 1 major and 1 minor criteria.

Major Criteria

Minor Criteria

Basaloid follicular hamartoma has also been linked to a mutation in the patched gene but is a benign tumour. There are solitary and multiple hereditary variants.

What is the treatment for Gorlin's syndrome?

The first sign of the disease may be the development of a medulloblastoma in a child aged 2 to 5 years, but luckily this is uncommon. Only a few children with medulloblastoma also have Gorlin's syndrome. If detected early enough, the tumour may be treated by surgery and chemotherapy.

Patients with Gorlin syndrome often require surgery to remove jaw cysts in their 20s. Often, it is not until they are in their 30s or 40s that the basal cell carcinomas begin to appear so the diagnosis of the syndrome is often delayed.

All patients with Gorlin's syndrome should see a dermatologist for regular skin examinations so that basal cell carcinomas can be treated when they are small. This may require surgery or one of the many other treatments available for these tumours including cryotherapy, photodynamic therapy, fluorouracil cream and imiquimod cream. They should not receive treatment with irradiation as this is liable to provoke the development of more tumours.

Some patients may require long term treatment with oral retinoids such as isotretinoin or acitretin.

Sun protection is vital to reduce the number of skin cancers developing but even complete protection will not prevent all basal cell carcinomas in patients with Gorlin's syndrome.

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Author: Dr Amanda Oakley MBChB FRACP, Dept of Dermatology Health Waikato

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