Birt-Hogg-Dube Syndrome (BHDS) Differential Diagnoses

Updated: Aug 23, 2019
  • Author: Krista K Buckley, DO; Chief Editor: Dirk M Elston, MD  more...
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Diagnostic Considerations

Differential diagnosis of genetic disorders with multiple firm papules of the face has been categorized according to the origin of the lesions, as follows:

  • Epithelial origin - Trichoepithelioma associated with Brooke-Spiegler syndrome and Rombo syndrome, trichilemmomas associated with Cowden disease, basaloid follicular hamartoma associated with basaloid follicular hamartoma syndrome

  • Mesodermal origin - Angiofibromas of Pringle disease

  • Mixed origin - Fibrofolliculoma

Several authors have reported that Hornstein-Knickenberg syndrome (characterized by multiple perifollicular fibromas) may be the same syndrome as Birt-Hogg-Dubé syndrome. The flesh-colored papules distributed over the head, neck, and upper trunk associated with both syndromes are similar. Both syndromes are autosomal dominant and have been associated with colonic polyposis and neoplasms. Several other authors suggest perifollicular fibromas simply may represent a portion of the spectrum of fibrofolliculomas and trichodiscomas, with the different appearance relating to the plane of section. [65]

Differential Diagnoses