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

Abstract

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 angiofibromas and collagenomas. Herein we describe a patient with genetically confirmed MEN type I syndrome who presented with trichodiscomas, skin tumors characteristic of Birt-Hogg-Dubé (BHD) syndrome. Although BHD is associated with mutations in the folliculin (FLCN) gene, this patient with trichodiscomas was negative for the FLCN mutation.