Revision 57 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 (KOT), multiple basal cell carcinomas (BCC), 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. 

Clinical presentation

Pathology

Genetics

It is an autosomal dominant syndrome with complete penetrance and variable expressivity. It is related to a mutation in PTCH tumor suppressor gene on chromosome 9, which encodes for the "Sonic Hedgehog" receptor 3. 35-50% of affected individuals are the result of new mutations. Individuals with the syndrome are sensitive to ionizing radiation, with one study showing accumulation of p53 in exposed cells3. Patients with Gorlin syndrome may be hypersensitive to and contraindicated from receiving radiation therapy.

Diagnosis

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 carcinoma: >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

History and etymology

It was first described by R J Gorlin (1923-2006) and R W Goltz (1923-) in 1960 2.

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