Major Manifestations of Gorlin Syndrome in a Patient With Hemophilia A

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominantly inherited condition in which constitutive pathway activity and tumor cell proliferation are disturbed due to defects in hedgehog signaling. This study reports an adult case of hemophilia A suspected of having Gorlin syndrome. There is no similar evidence in the literature to describe the association between these disorders. NBCCS is characterized by the development of multiple basal cell carcinomas (BCCs). The case presented in this study had two major manifestations of NBCCS, including the calcification of the falx cerebri and the presence of keratocystic odontogenic tumors (KOTs); however, no minor manifestations of NBCCS were found in this case. On the other hand, given the financial restrictions, it was impossible to perform a genetic examination to confirm the presence of NBCCS.