Page 1 of 2
90% of individuals with the syndrome will develop basal cell carcinomas (BCC) at some stage in their life.
BCCs is the most common form of cancer in the general population. BCCs in members of the general population are associated with excess exposure to the sun, and therefore appear on the sun exposed parts of the body, usually the face. In Gorlin syndrome the BCCs can also occur on other areas of the body which have not been exposed to the sun.
Brownish/pink/orange basal cell nevi may occur in early childhood and may lie quiescent (dormant) without aggressive behaviour. The histologic appearance is that of a typical BCC which, when excised, can be the first unexpected finding of Gorlin syndrome in simplex cases (affected individuals with no family history of Gorlin syndrome, especially children.
Active BCCs may grow from existing basal cell nevi that may be numerous or typical BCCs may appear from virtually blemish free skin. BCCs may also crust, bleed, ulcerate or may present as a localised infection.
BCCs can occur in early childhood but in general do not present until the late teens or early adulthood. They occur more frequently with age, although 10% of individuals with Gorlin syndrome never develop a BCC. Individuals with type 1 skin (white skin that burns but never tans) and individuals with excessive ultraviolet light exposure seem especially prone to developing large numbers of BCCs.
The areas around the eyes, nose, cheek bones and the upper lip are the most frequently afected sites on the face. Usually only a few become aggressive, when they are locally invasive and behave like ordinary BCCs. Evidence of aggressive transformation of an individual lesion includes an increase in size, ulceration, bleeding, or crusting. Some patients can develop aggressive BCCs without first developing naevi.
Ref: Neviod Basal Cell Carcinoma Syndrome. Synonyms: Basal Cell Nevus syndrome (BCNS), Gorlin syndrome, NBCCS. D Gareth Evans, MD, FRCP and Peter A Farndon, MD, FRCP Gene Reviews 20301330 Mar 2013
To see full article see Gene Reviews
Further information about BCCs can be accessed - courtesy of British Association of Dermatologists
Next Review January 2017
Originally produced by Professor P. A. Farndon, Clinical Geneticist, Jim Costello (deceased) and Margaret Costello. We are reliant on a team of medical advisors for the clinical content of the website. We are grateful for their continuing support.
Gorlin Syndrome Group is Registered Charity in the UK - No 1096361