Revision 46 for 'Gorlin-Goltz syndrome'

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Gorlin-Goltz syndrome

Gorlin-Goltz syndrome, also known as the basal cell nevus syndrome, is a rare phakomatosis characterized by multiple odontogenic keratocysts, multiple basal cell carcinomas, and other abnormalities.

Epidemiology

The condition is thought to occur in ~ 1 in 60,000 live births while 0.4% of patients with a basal cell carcinoma are estimated to have Gorlin syndrome. ~ 2% and 22% of patients with a basal cell carcinoma younger than 45 years and 19 years of age respectively are estimated to have the syndrome. 

Genetics

It is an autosomal dominant syndrome with complete penetrance and variable expressivity. 35-50% of affected individuals are due to new mutations. It is related to mutation in PTCH tumor suppressor gene on chromosome 9. Individuals with the syndrome are sensitive to ionizing radiation.

Diagnostic criteria

A clinical diagnosis can be made using major and minor criteria. To make the diagnosis, either two major or, one major and two minor criteria must be met.

Major criteria
  • basal cell cancers: > 2 or 1 under the age 20
  • odontogenic keratocysts (see case 1)
  • palmar pits: 3 or more
  • bilamellar calcification of the falx cerebri
  • rib anomalies: bifid rib (see image), fused, splayed
  • first degree relative with Gorlin syndrome
Minor criteria

Clinical features

History and etymology

It was first described by Robert James Gorlin (1923 - 2006) and Robert William Goltz (1923 - ) in 1960 2.

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