Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dubé syndrome

J Am Acad Dermatol. 2005 Aug;53(2 Suppl 1):S108-11. doi: 10.1016/j.jaad.2004.11.021.

Abstract

Birt-Hogg-Dubé syndrome (BHDS) is an uncommon autosomal dominant genodermatosis characterized by a triad of skin tumors--fibrofolliculomas, trichodiscomas, and acrochordons--together with an increased risk of renal tumors and spontaneous pneumothoraces. This report describes multiple facial angiofibromas as the predominant initial manifestation of BHDS. The patient had a total of 41 facial papules removed via shave excision, initially for diagnostic and then for therapeutic purposes; histologic evaluation revealed diagnostic features of angiofibroma in 39 lesions and fibrofolliculoma in only 2. BHDS should be considered, along with tuberous sclerosis and multiple endocrine neoplasia type 1, in the differential diagnosis of multiple facial angiofibromas, particularly when onset is in adulthood.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Angiofibroma / diagnosis*
  • Angiofibroma / genetics
  • Angiofibroma / pathology
  • Diagnosis, Differential
  • Diseases in Twins / diagnosis*
  • Diseases in Twins / genetics
  • Diseases in Twins / pathology
  • Facial Neoplasms / diagnosis*
  • Facial Neoplasms / genetics
  • Facial Neoplasms / pathology
  • Genes, Dominant
  • Humans
  • Male
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / pathology
  • Proteins / genetics
  • Proto-Oncogene Proteins
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology
  • Tumor Suppressor Proteins
  • Twins, Monozygotic

Substances

  • FLCN protein, human
  • Proteins
  • Proto-Oncogene Proteins
  • Tumor Suppressor Proteins