Work

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

Year: 2017

Type: article

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 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.

Source: Dermatology Online Journal

DOI: 10.5070/d3238036007

Authors: Jennifer E Yeh, Steven R Tahan, Susan Burgin

Institutions: Harvard University, Beth Israel Deaconess Medical Center

Language: English

Topic: Cancer and Skin Lesions

Subfield: Dermatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $300