basal cell naevus syndrome

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Gorlin's Syndrome is a rare autosomal dominant condition characterised by a marked predisposition to developing multiple basal cell carcinomata. The description of basal cell carcinoma associated with congenital rib anomalies and acquired jaw cysts dates back to 1894 as quoted by Zvulunov et al (1). This association, along with calcification of falx cerebri, was established as a unique syndrome by Gorlin and Goltz in 1960. Therefore, it is also known as Gorlin-Goltz syndrome and Gorlin syndrome as well as nevoid basal cell carcinoma syndrome and basal cell nevus syndrome.

In recent years, the pathogenesis has become clearer with a clear link to chromosome 9. There are clear criteria for diagnosis.

Classical clinical features include:

  • multiple basal cell carcinoma lesions on the skin
  • palmar pits
  • cysts within the mandible
  • fused or bifid ribs
  • calcification of the falx cerebri
  • cataracts

Ref: A. Zvulunov, D. Strother, G. Zirbel et al., Nevoid basal cell carcinoma syndrome. Report of a case with associated Hodgkin?s disease. J Pediatr Hematol Oncol 17 (1995), pp. 66-70.

Last reviewed 01/2018