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

American Journal of Medical Genetics. Part a
R Happle

Abstract

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 de...Continue Reading

References

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Citations

Dec 12, 2012·Journal of Clinical Pathology·Mitsuko Furuya, Yukio Nakatani
Mar 15, 2018·Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG·Ortrud K SteinleinElke C Sattler
Mar 15, 2018·Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG·Ortrud K SteinleinElke C Sattler
Dec 27, 2019·Journal of the European Academy of Dermatology and Venereology : JEADV·L DiluvioA Terrinoni
Jan 11, 2020·Journal of the European Academy of Dermatology and Venereology : JEADV·R Happle
Jul 12, 2017·American Journal of Clinical Dermatology·Yun TongPhilip R Cohen
Nov 20, 2015·Expert Opinion on Orphan Drugs·Laura S Schmidt, W Marston Linehan

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