The Gorlin syndrome. A review of 11 cases

Gorlin syndrome is an autosomal dominant disorder with variable penetrance and expressivity. It is characterized by early onset of multiple basal cell carcinomas, mandibular keratocytes, pits of the palms and soles, cerebral ectopic calcification and several skeletal anomalies. We report a series of eleven patients (eight females and three males) with Gorlin syndrome, belonging to nine different families, which have been diagnosed in our Dermatology department during the last ten years. The ages at the moment of diagnosis ranged from 8 to 73 years. Ovarian fibromas were demonstrated in five cases and a frontal parasagittal meningioma in one case. Gorlin syndrome has been recently linked to a putative tumor suppressor gene which has been mapped to 9(q22.3-q31). Further research on the function of the protein encoded by this gene may provide additional insight on the mechanisms leading to oncogenesis in sporadic and hereditary basal cell carcinomas and other tumors.