Gorlin-Goltz syndrome
Updates to Article Attributes
Gorlin-Goltz syndrome(also known as the basal cell naevus syndrome, nevoid basal cell carcinoma syndrome, or just Gorlin syndrome) is a rare phakomatosis characterised by multiple odontogenic keratocysts (OKC), 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
- 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 a mutation in the PTCH tumour 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 cells 3. 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
- 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 described by Robert James Gorlin (1923-2006) and Robert William Goltz (1923-2014) 5 in 1960 2, although cases had been reported in the literature prior to this.
-<p><strong>Gorlin-Goltz syndrome</strong><strong> </strong>(also known as the <strong>basal cell naevus syndrome</strong>, <strong>nevoid basal cell carcinoma syndrome</strong>, or just <strong>Gorlin syndrome</strong>) is a rare <a href="/articles/phakomatosis">phakomatosis</a> characterised by multiple <a href="/articles/odontogenic-keratocyst">odontogenic keratocysts (OKC)</a>, multiple <a href="/articles/basal-cell-carcinomas">basal cell carcinomas (BCC)</a> and other abnormalities.</p><h4>Epidemiology</h4><p>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. </p><h4>Clinical presentation</h4><ul>- +<p><strong>Gorlin-Goltz syndrome</strong><strong> </strong>(also known as the <strong>basal cell naevus syndrome</strong>, <strong>nevoid basal cell carcinoma syndrome</strong>, or just <strong>Gorlin syndrome</strong>) is a rare <a href="/articles/phakomatosis">phakomatosis</a> characterised by multiple <a href="/articles/odontogenic-keratocyst">odontogenic keratocysts (OKC)</a>, multiple <a href="/articles/basal-cell-carcinomas">basal cell carcinomas (BCC)</a> and other abnormalities.</p><h4>Epidemiology</h4><p>The condition is thought to occur in ~1 in 60,000 live births while 0.4% of patients with basal cell carcinoma are estimated to have Gorlin syndrome. ~2% and 22% of patients with basal cell carcinoma younger than 45 years and 19 years of age, respectively, are estimated to have the syndrome. </p><h4>Clinical presentation</h4><ul>