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.
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.
- 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
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.
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 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
- frontal bossing, cleft lip or hypertelorism
- Sprengel deformity, pectus excavatum or pectus carinatum, syndactyly
- bridging of the sella turcica, hemivertebrae, flame shaped osseous radiolucencies
- ovarian fibroma
History and etymology
It was first described by R J Gorlin (1923-2006) and R W Goltz (1923-) in 1960 2.