Folliculin mutation-negative trichodiscomas in a patient with multiple endocine neoplasia type I syndrome

摘要

Multiple endocrine neoplasia (MEN) type I, an autosomal dominant disorder caused by mutations in the MEN1 gene, is classically associated with parathyroid, pituitary, and pancreatic tumors. Patients with MEN type I also frequently exhibit multiple cutaneous lesions, specifically facial angiofibromasand collagenomas. Herein we describe a patient with genetically confirmed MEN type I syndrome who presented with trichodiscomas, skin tumorscharacteristic of Birt-Hogg-Dubé (BHD) syndrome. Although BHD is associated with mutations in the folliculin (FLCN) gene, this patient with trichodiscomaswas negative for the FLCN mutation.