Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration

Am J Med Genet A. 2012 Jun;158A(6):1247-51. doi: 10.1002/ajmg.a.35330. Epub 2012 May 11.


The so-called Birt-Hogg-Dubé syndrome, an autosomal dominant trait characterized by multiple fibrofolliculomas and extracutaneous cancer proneness, was not first recognized by Birt, Hogg, and Dubé. Hence, the presently used eponymic designation reflects a historical error. In fact, the disorder was discovered in the following way. In 1975, Hornstein and Knickenberg described a "distinct nosological entity" in two sibs with multiple perifollicular fibromas, multiple skin tags, and polyps of the colon with a tendency to malignancy. The father had similar skin lesions and "bilateral kidney cysts" and unilateral lung cysts. In 1976, Hornstein et al. informed, in two additional articles, both geneticists and gastroenterologists about the new autosomal dominant trait. When Birt et al. presented their report in 1977, they knew of Hornstein's first publication but were convinced that they had discovered "a previously unrecognized hereditary pilar hamartoma." This was a misconception because what they called "fibrofolliculoma" has turned out to be identical with "perifollicular fibroma" as described by Hornstein et al. Moreover, Birt et al. failed to mention any associated extracutaneous cancer proneness, whereas Hornstein et al. had delineated the complete syndrome. For all of these reasons, the new term "Hornstein-Birt-Hogg-Dubé syndrome" appears to be appropriate.

Publication types

  • Editorial
  • Historical Article

MeSH terms

  • Birt-Hogg-Dube Syndrome* / diagnosis
  • Birt-Hogg-Dube Syndrome* / history
  • History, 20th Century
  • Humans
  • Terminology as Topic*