Gorlin syndrome or Nevoid Basal Cell Carcinoma syndrome is a medical condition affecting many body systems and is caused by a fault in just one of the thousands of genes which humans possess.
The condition is characterised by the development of multiple jaw cysts (keratocysts) frequently beginning in the second decade of life and/or basal cell carcinomas usually from the third decade.
Approximately 60% of individuals have a recognisable appearance with macrocephaly (larger than average skull), bossing of the forehead (prominent forehead), coarse facial features, and facial milia (minute white cysts of the skin).
Most individuals have skeletal anomalies, e.g. bifid ribs (divided at the end) and wedge shaped vertebrae. Calcification of the falx (fold in membrane of the brain descending vertically between the two halves of the brain) is present in more than 90% of affected individuals by age 20 years. It is usual for most individuals to have pits (small despressions) on the palms of the hands and the soles of the feet.
Life expectancy in Gorlin syndrome is not significantly different from average. The major issue is with the cosmetic effect of treatment of multiple skin tumours and usually, to a lesser extent, treatment of jaw keratocyst. A poor cosmetic outcome can lead to social difficulties, including difficulty maintaining employment.
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
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Next Review January 2017
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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.
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