basal cell nevus syndrome

Masses of

developmental and genetic origin affecting the paediatric craniofacial skeleton. Typical manifestations of nevoid basal cell carcinoma syndrome (NBCCS) in a 16-year-old boy. a Orthopantomography (OPT) shows cystic lesions of the mandible and maxilla (arrows), with unilocular and multilocular pattern and smooth or scalloped borders associated with displaced and unerupted permanent teeth. b Coronal CT scan (bone window) shows ectopic calcifications of the falx cerebri and tentorium cerebelli (arrows) and spotted meningeal calcifications (arrowheads). Brain MRI reveals a cavum veli interpositi on axial T2 (asterisk in c) and coronal contrast-enhanced T1 (asterisk in d) and also vermian dysgenesis (arrowheads in d)

insightsimaging.springeropen.com • Open Access

Gorlin-Goltz

syndrome • Gorlin-Goltz syndrome - Ganzer Fall bei Radiopaedia

Ibrahim D, Gorlin-Goltz syndrome. Case study, Radiopaedia.org (Accessed on 18 Nov 2022) https://doi.org/10.53347/rID-28511 • CC by-nc-sa 3.0 (modified)

Gorlin-Goltz

syndrome • Gorlin syndrome - Ganzer Fall bei Radiopaedia

Kuok Y, Gorlin syndrome. Case study, Radiopaedia.org (Accessed on 18 Nov 2022) https://doi.org/10.53347/rID-17888 • CC by-nc-sa 3.0 (modified)

Gorlin-Goltz

syndrome • Gorlin-Goltz syndrome - Ganzer Fall bei Radiopaedia

Cuete D, Gorlin-Goltz syndrome. Case study, Radiopaedia.org (Accessed on 18 Nov 2022) https://doi.org/10.53347/rID-26913 • CC by-nc-sa 3.0 (modified)

Gorlin-Goltz

syndrome • Gorlin-Goltz syndrome - incidental posterior communicating aneurysm - Ganzer Fall bei Radiopaedia

Coulthard A, Gorlin-Goltz syndrome - incidental posterior communicating aneurysm. Case study, Radiopaedia.org (Accessed on 18 Nov 2022) https://doi.org/10.53347/rID-39078 • CC by-nc-sa 3.0 (modified)

Gorlin-Goltz

syndrome • Odontogenic keratocysts - Ganzer Fall bei Radiopaedia

St-Amant M, Odontogenic keratocysts. Case study, Radiopaedia.org (Accessed on 18 Nov 2022) https://doi.org/10.53347/rID-55006 • CC by-nc-sa 3.0 (modified)

Gorlin-Goltz

syndrome • Gorlin-Goltz syndrome - Ganzer Fall bei Radiopaedia

Bickle I, Gorlin-Goltz syndrome. Case study, Radiopaedia.org (Accessed on 18 Nov 2022) https://doi.org/10.53347/rID-80709 • CC by-nc-sa 3.0 (modified)

School ager

with a bump on the right side of the face. Axial (above), coronal (below left) and sagittal (below right) CT without contrast of the face shows a lytic, expansile lesion in the right maxilla displacing the second right premolar tooth anterolateraly. There was no bone destruction or associated soft tissue mass.The diagnosis was an odontogenic keratocyst in a patient with Gorlin syndrome.

pediatricimaging.org • CC-by-nc-sa 4.0

Radiopaedia • CC-by-nc-sa 3.0 • de

Gorlin-Goltz syndrome (also known as the basal cell nevus syndrome, nevoid basal cell carcinoma syndrome, or just Gorlin syndrome) is a rare phakomatosis characterized 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 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.

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 4 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 tumor suppressor gene on chromosome 9, which encodes for the "Sonic Hedgehog" receptor . 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 . 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) in 1960 , although cases had been reported in the literature prior to this.