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Dermatology Online Journal

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

  • Author(s): Yeh, Jennifer E
  • Tahan, Steven R
  • Burgin, Susan
  • et al.

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.

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