Gorlin-Goltz syndrome, also known as the basal cell nevus syndrome, is a phakomatosis.
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.
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.
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.
- 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
- frontal bossing, cleft lip or hypertelorism
- Sprengel deformity, pectus excavatum or pectus carinatum, syndactyly
- bridging of the sella turcica, hemivertebrae, flame shaped radiolucencies
- ovarian fibroma
- multiple basal cell carcinomas, often at puberty and in adolescence
- craniofacial anomalies
- odontogenic keratocysts, often multiple
- frontal bossing
- hypertelorism : 5%
- calcified falx cerebri
- calcified tentorium and petroclinoid ligaments
- cleft lip
- ocular defects including
- bridging of the sella turcica
- high arched palate
- agenesis of the corpus callosum (occurs in ~10% of cases)
- musculoskeletal anomalies
- neoplasms / hamartomas
It was first described by Robert James Gorlin (1923 - 2006) and Robert William Goltz (1923 - ) in 1960 2.