Abstract
IntroductionGorlin-Goltz syndrome is a rare hereditary disease. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Multiple basal cell carcinomas (BCCs), odontogenic keratocysts, skeletal abnormalities, hyperkeratosis of palms and soles, intracranial ectopic calcifications of the falx cerebri and facial dysmorphism are considered the main clinical features. Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by DNA analysis. Because of the different systems affected, a multidisciplinary approach team of various experts is required for a successful management.Case presentationWe report the case of a 19 year-old female who was involved in a car accident and found to present imaging findings of Gorlin-Goltz syndrome during a routine whole body computed tomography (CT) scan in order to exclude traumatic injuries.ConclusionRadiologic findings of the syndrome are easily identifiable on CT scans and may prompt to early verification of the disease, which is very important for regular follow-up and better survival rates from the co-existent diseases.
Highlights
Gorlin-Goltz syndrome is a rare hereditary disease
Radiologic findings of the syndrome are identifiable on computed tomography (CT) scans and may prompt to early verification of the disease, which is very important for regular follow-up and better survival rates from the co-existent diseases
Gorlin-Goltz syndrome known as Nevoid Basal Cell Carcinoma Syndrome (NBCCS), was first reported in 1894 [1], but delineated by Gorlin and Goltz [2] in 1960, as a distinct entity consisting of ectodermal and mesodermal abnormalities
Summary
Gorlin-Goltz syndrome known as Nevoid Basal Cell Carcinoma Syndrome (NBCCS), was first reported in 1894 [1], but delineated by Gorlin and Goltz [2] in 1960, as a distinct entity consisting of ectodermal and mesodermal abnormalities This is a hereditary disease with autosomal dominant trait, characterised by high penetration and variable expressiveness, even if sporadic cases have been described. We report the case of a 19 year-old female who was found to present imaging findings of Gorlin-Goltz syndrome. She was incidentally involved in a car accident and a routine whole body multidetector computed tomography (MDCT) scan was performed in order to exclude traumatic injuries. A DNA analysis was advised, in order to confirm the diagnosis in the gene level
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
