Gorlin-Goltz syndrome
Updates to Article Attributes
Gorlin-Goltz syndrome,also known as the basal cell naevus 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.
Clinical presentation
- multiple basal cell carcinomas, often at puberty and in adolescence
- craniofacial anomalies
- odontogenic keratocysts, often multiple
- frontal bossing
- hypertelorism: 5%
- macrocephaly
- calcified falx cerebri
- calcified tentorium and petroclinoid ligaments
- cleft lip
- ocular defects including:
- coloboma of the iris
- microphthalmia
- bridging of the sella turcica
- high arched palate
- agenesis of the corpus callosum (occurs in ~10% of cases)
- musculoskeletal anomalies
- shortened 4th metacarpal bones
- bifid rib or other rib abnormality (fusion, partial agenesis, etc.)
- palmar and plantar pitting: defects of basal cell maturation
- neoplasms/hamartomas
- medulloblastoma: especially in males (M : F ~3 : 1)
- calcified ovarian fibroma
- lymphomesenteric cysts
- fetal rhabdomyoma
- cardiac fibroma(s)
Pathology
Genetics
It is an autosomal dominant syndrome with complete penetrance and variable expressivity. It is related to mutation in PTCH tumour suppressor gene on chromosome 9. 35-50% of affected individuals are the result of new mutations. Individuals with the syndrome are sensitive to ionizing radiation.
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
- macrocephaly
- 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
- medulloblastoma
History and etymology
It was first described by R J Gorlin (1923-2006) and R W Goltz (1923-) in 1960 2.
-</ul><h4>Pathology</h4><h5>Genetics</h5><p>It is an autosomal dominant syndrome with complete penetrance and variable expressivity. It is related to mutation in PTCH tumour suppressor gene on chromosome 9. 35-50% of affected individuals are the result of new mutations. Individuals with the syndrome are sensitive to ionizing radiation.</p><h5>Diagnosis</h5><p><span style="font-size:13px; line-height:1.6">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.</span></p><h5>Major criteria</h5><ul>- +</ul><h4>Pathology</h4><h5>Genetics</h5><p>It is an autosomal dominant syndrome with complete penetrance and variable expressivity. It is related to mutation in PTCH tumour suppressor gene on chromosome 9. 35-50% of affected individuals are the result of new mutations. Individuals with the syndrome are sensitive to ionizing radiation.</p><h5>Diagnosis</h5><p>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.</p><h5>Major criteria</h5><ul>
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