Gorlin-Goltz syndrome
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Gorlin-Goltz syndrome,also known as the basal cell naevus syndrome, is a rarephakomatosis 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 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 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.
Diagnostic criteria
A clinical
Diagnosis
A clinical diagnosis can be made using major and minor criteria. To make the diagnosis, either two major or one 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
Clinical features
multiple basal cell carcinomas, often at puberty and in adolescence-
craniofacial anomalies-
odontogenic keratocysts, often multiple frontal bossing-
hypertelorism: 5% macrocephalycalcified falx cerebricalcified tentorium and petroclinoid ligamentscleft lip-
ocular defects including:-
colobomaof the iris microphthalmia
-
bridging of the sella turcicahigh arched palate-
agenesis of the corpus callosum(occurs in ~10% of cases)
-
-
musculoskeletal anomaliesshortened 4thmetacarpal bones-
bifid ribor 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) -
calcifiedovarian fibroma lymphomesenteric cystsfetal rhabdomyomacardiac fibroma(s)
-
History and etymology
It was first described by R J Gorlin (1923-2006) andR W Goltz (1923-) in 1960 2.
-<p><strong>Gorlin-Goltz syndrome</strong>,<strong> </strong>also known as the <strong>basal cell naevus syndrome</strong>, is a rare <a href="/articles/phakomatosis">phakomatosis</a> characterized by multiple <a href="/articles/keratocystic-odontic-tumour">odontogenic keratocysts</a>, multiple <a href="/articles/basal-cell-carcinomas">basal cell carcinomas</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><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><h4>Diagnostic criteria</h4><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>-<li>basal cell carcinoma: >2 or 1 under the age 20</li>-<li>-<a href="/articles/keratocystic-odontic-tumour">odontogenic keratocysts </a>(see case 1)</li>-<li>palmar pits: 3 or more</li>-<li>bilamellar calcification of the <a href="/articles/falx-cerebri">falx cerebri</a>-</li>-<li>rib anomalies: <a href="/articles/bifid-rib">bifid rib</a> (see image), fused, splayed</li>-<li>first degree relative with Gorlin syndrome</li>-</ul><h5>Minor criteria</h5><ul>-<li><a href="/articles/macrocephaly">macrocephaly</a></li>-<li>-<a href="/articles/frontal-bossing">frontal bossing</a>, <a href="/articles/cleft-lip">cleft lip</a> or <a href="/articles/hypertelorism">hypertelorism</a>-</li>-<li>-<a href="/articles/sprengel-deformity">Sprengel deformity</a>, <a href="/articles/pectus-excavatum">pectus excavatum</a> or <a href="/articles/pectus-carinatum">pectus carinatum</a>, <a href="/articles/syndactyly">syndactyly</a>-</li>-<li>bridging of the <a href="/articles/sella-turcica">sella turcica</a>, <a href="/articles/hemivertebrae">hemivertebrae</a>, flame shaped osseous radiolucencies</li>-<li><a href="/articles/ovarian-fibroma">ovarian fibroma</a></li>-<li><a href="/articles/medulloblastoma">medulloblastoma</a></li>-</ul><h4>Clinical features</h4><ul>- +<p><strong>Gorlin-Goltz syndrome</strong>,<strong> </strong>also known as the <strong>basal cell naevus syndrome</strong>, is a rare <a href="/articles/phakomatosis">phakomatosis</a> characterized by multiple <a href="/articles/keratocystic-odontic-tumour">odontogenic keratocysts</a>, multiple <a href="/articles/basal-cell-carcinomas">basal cell carcinomas</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>
-<li><a title="High arched palate" href="/articles/high-arched-palate">high arched palate</a></li>- +<li><a href="/articles/high-arched-palate">high arched palate</a></li>
-<a href="/articles/dysgenesis-of-the-corpus-callosum">agenesis of the corpus callosum</a> (occurs in ~10% of cases)</li>- +<a href="/articles/dysgenesis-of-the-corpus-callosum">agenesis of the corpus callosum</a> (occurs in ~10% of cases)</li>
-<li><a href="/articles/positive-metacarpal-sign">shortened 4<sup>th</sup> metacarpal bones</a></li>- +<li><a href="/articles/positive-metacarpal-sign">shortened 4<sup>th</sup> metacarpal bones</a></li>
-<a href="/articles/bifid-rib">bifid rib</a> or other rib abnormality (fusion, partial agenesis, etc.)</li>- +<a href="/articles/bifid-rib">bifid rib</a> or other rib abnormality (fusion, partial agenesis, etc.)</li>
-</ul><h4>History and etymology</h4><p>It was first described by <strong>R J Gorlin </strong>(1923-2006) and <strong>R W Goltz</strong> (1923- ) in 1960 <sup>2</sup>.</p>- +</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>
- +<li>basal cell carcinoma: >2 or 1 under the age 20</li>
- +<li>
- +<a href="/articles/keratocystic-odontic-tumour">odontogenic keratocysts </a>(see case 1)</li>
- +<li>palmar pits: 3 or more</li>
- +<li>bilamellar calcification of the <a href="/articles/falx-cerebri">falx cerebri</a>
- +</li>
- +<li>rib anomalies: <a href="/articles/bifid-rib">bifid rib</a> (see image), fused, splayed</li>
- +<li>first degree relative with Gorlin syndrome</li>
- +</ul><h5>Minor criteria</h5><ul>
- +<li><a href="/articles/macrocephaly">macrocephaly</a></li>
- +<li>
- +<a href="/articles/frontal-bossing">frontal bossing</a>, <a href="/articles/cleft-lip">cleft lip</a> or <a href="/articles/hypertelorism">hypertelorism</a>
- +</li>
- +<li>
- +<a href="/articles/sprengel-deformity">Sprengel deformity</a>, <a href="/articles/pectus-excavatum">pectus excavatum</a> or <a href="/articles/pectus-carinatum">pectus carinatum</a>, <a href="/articles/syndactyly">syndactyly</a>
- +</li>
- +<li>bridging of the <a href="/articles/sella-turcica">sella turcica</a>, <a href="/articles/hemivertebrae">hemivertebrae</a>, flame shaped osseous radiolucencies</li>
- +<li><a href="/articles/ovarian-fibroma">ovarian fibroma</a></li>
- +<li><a href="/articles/medulloblastoma">medulloblastoma</a></li>
- +</ul><h4>History and etymology</h4><p>It was first described by <strong>R J Gorlin </strong>(1923-2006) and <strong>R W Goltz</strong> (1923-) in 1960 <sup>2</sup>.</p>
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