A Case of Birt-Hogg-Dube Syndrome

S D Med. 2020 Apr;73(4):168-170.

Abstract

Birt-Hogg-Dube (BHD) syndrome is a rare condition that typically presents with a triad of benign cutaneous papules including fibrofolliculomas, pulmonary cysts and pneumothoraxes, and renal tumors. Though a rare disease, it is an important diagnosis so that monitoring for a renal neoplasm can begin. In this case report we discuss an asymptomatic patient diagnosed with BHD after undergoing a routine skin exam and highlight the importance of diagnosis so that routine screening can be implemented.

Publication types

  • Case Reports

MeSH terms

  • Birt-Hogg-Dube Syndrome* / diagnosis
  • Humans
  • Kidney Neoplasms*
  • Pneumothorax*
  • Rare Diseases
  • Skin Neoplasms*