Acrochordons are not a component of the Birt-Hogg-Dubé syndrome: does this syndrome exist? Case reports and review of the literature

Am J Dermatopathol. 1999 Aug;21(4):369-74. doi: 10.1097/00000372-199908000-00011.

Abstract

Multiple fibrofolliculomas, trichodiscomas, and acrochordons compose the triad of cutaneous lesions characterizing the Birt-Hogg-Dubé syndrome, inherited in an autosomal dominant fashion. We report a case of a family who had the triad of tumors of the Birt-Hogg-Dubé syndrome. Two members were observed clinically and histologically. Biopsies of the facial papules disclosed features of the fibrofolliculoma/trichodiscoma spectrum. Lesions that were clinically acrochordon-like proved to correspond to the same histopathologic spectrum. The characterization of the nature of the acrochordon-like lesions in our patients and the review of the literature allow us to question if acrochordons (skin tags) should be maintained as a component of this association. In light of our conclusion that fibrofolliculoma, trichodiscoma, and the acrochordon-like lesions are histologic variations of a single lesion, we further question whether the term "syndrome" is valid.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Female
  • Fibroma / genetics
  • Fibroma / pathology*
  • Hair Follicle / pathology
  • Hamartoma / pathology*
  • Humans
  • Male
  • Middle Aged
  • Neoplasms, Multiple Primary / genetics
  • Neoplasms, Multiple Primary / pathology*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology*
  • Syndrome