The aim of this educational poster is to present Gorlin Goltz syndrome’s radiological findings and diagnostic criteria.
is an autosomal dominant genetic disorder that it occurs in ~1 in 60,000 live births with a male to female ratio 1:1.
It is related to a mutation in PTCH supressor gene on chromosome 9.
Patients with the syndrome are sensitive to ionizing radiation,
with one study showing accumulation of p53 in exposed cells.
This syndrome have some synonyms such as Basal cell nevus syndrome,
Nevoid basal cell carcinoma syndrome,
Multiple basilioma syndrome and Fifth phacomatosis.
Findings and procedure details
Clinical manifestations include mostly basal cell carcinomas,
which appear mostly between puberty and 35 years of age; odontogenic keratocysts that generally develop in the first,
second and third decades ; palmar and/or plantar pits and ectopic calcifications of the falx cerebri.
Many different symptoms and findings may be associated with Gorlin-Goltz syndrome.
Gorlin-Goltz syndrome clinical manifestations
Benign dermal cysts
Multiple basal cell carcinomas (in white patients %90,
in blacks %40)
Palmo-plantar pits (%90)
Central nervous system
falx cerebri (%70-85)
as a radiologist,
we should know at least major criteria and typical skeletal imaging findings.
Presence of keratocyst,
which is one of the first symptoms of the syndrome and other imaging findings that may be accompanied (falx cerebri calcification,
etc.) will provide early diagnosis even if no histopathologic verifications or gene analysis have been performed.
Patients who have Gorlin-Goltz syndrome are sensitivite to ionizing radiation. That's why the correct diagnosis must be done with multidisiplinary approach before starting the treatment.
Multiple nevoid basal-cell epithelioma,
jaw cysts and bifid rib.
1960;262 : 908-12.
carcinomas in gorlin syndrome: a review of 202 patients.
Bale SJ: Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
Am J Med Genet 1997,
Del Mastro RG,