Incidental Finding of Lamellar Calcification of the Falx Cerebri Leading to the Diagnosis of Gorlin-Goltz Syndrome
A 53-year-old woman was referred to a radiologist for performance of a routine computed tomography scan of the head to exclude intracranial hemorrhage after accidental head trauma. The computed tomography imaging detected lamellar calcification of the falx cerebri, which is a pathognomonic feature of GGS (fig. ) []. Meeting the criteria for GGS and considering the pathognomonic feature of the lamellar calcification (major criterion for GGS), the patient was referred to the Department of Dermatology.\nAn examination of the patient's skin showed multiple small lesions clinically resembling basal cell carcinomas (BCCs) on the back, for which shave excisions were carried out. One suspected nodular BCC on the nose was removed by Mohs micrographic surgery. Pathologic examination of the lesions revealed 9 superficial BCCs on the back and 1 nodular BCC on the nose. The patient reported that the first BCC had occurred at the age of 27 years, and subsequently 4 other superficial BCCs had been removed by shave excision until the diagnosis of GGS was established. Furthermore, the patient presented with multiple palmar pits and marked syndactyly of the toes. Therefore, in our case, 2 major criteria [(I) lamellar calcification of falx cerebri, and (II) more than 2 BCCs] and 1 minor criterion (marked syndactyly of digits) were detected []. Additionally, the diagnosis of GGS was confirmed by positive testing for mutations in the tumor suppressor gene PTCH. Taking into account that GGS is an autosomal dominant genetic disease with nearly full penetrance and variable expressivity [], the daughters of our patient were screened for PTCH gene mutations as well. Although they both had no BCCs upon clinical inspection and none recorded in their medical history, one of the daughters tested positive for a PTCH gene mutation.