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Saturday, 18 July 2009 10:58

The following skin problems present in Gorlin Syndrome.

Basal cell naevi and basal cell carcinoma (BCC)

If a 'naevus' and a basal cell carcinoma from someone with Gorlin Syndrome are examined under a microscope, their appearances are identical. However, they behave differently.  The 'naevi' often develop first, sometimes BCCs appear to arise from naevi. For the purposes of the description which follows, it is helpful to treat 'naevi' and 'naevoid basal cell carcinomas' as though they were separate entities.

Naevi

Naevi affect 53% of patients less than 20 years of age, rising to 74% over the age of 20 years. Ordinary naevus cell naevi (moles) occur in about 4% of unaffected relatives and are present from birth, whilst affected family members report that the naevi tend to occur multiply in crops, their numbers increasing with time. Naevi also appear as individual lesions. Someone with Gorlin Syndrome may develop no naevi, a few or many hundreds.

The naevi are flesh coloured, reddish brown or pearly, the groups resembling moles, skin tags, ordianry naevus cell naevi or haemangoimas. Some grow rapidly for a few days to a few weeks, but the most remain static. If one is removed, it will have the appearance down the microscope of a basal cell carcinoma, which can cause great alarm in children with the syndrome. In fact only 14% of people with Gorlin Syndrome under the age of 20 years have a rapidly growing BCC. It is unusual to develop aggressive BCCs before puberty.

Skin tags

Skin tags are especially common around the neck, like the naevi, histology reveals the typical features of a basal cell carcinoma, but the skin tags do not generally change in size or shape.

Cysts in the skin

Small keratin filled cysts (milia) are found on the face in 30%, most commonly in the area below the eyes, but they can also occur on the forehead.  Meibornian cysts on the corneal surface of the eyelids can be distressing as they repeatedly discharge material.  Epidermoid cysts occur on the limbs and trunk in over 50% of cases. They are usually 1-2 cms in diameter, and are particularly common around the knee.

BCCs are discussed at further length on the page Basal Cell Carcinomas. 
Last Updated on Wednesday, 12 August 2009 19:00
 

  Written and produced by Professor P A Farndon, Clinical Geneticist, Jim Costello (deceased) & Margaret Costello, unless otherwise stated.

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