Hornstein-Knickenberg syndrome vs. Birt-Hogg-Dubé syndrome: a critical review of an unjustified designation.

The disorder that is presently called 'Birt-Hogg-Dubé syndrome' was in reality delineated in 1975 by Otto P. Hornstein and Monika Knickenberg from Erlangen (Germany) who emphasized that the occurrence of multiple 'perifollicular fibromas' represented a distinct autosomal dominant trait heralding extracutaneous cancer proneness. By contrast, Arthur R. Birt, Georgina R. Hogg and W. James Dubé from Winnipeg, Manitoba, Canada, claimed in 1977 that they had discovered 'a previously unrecognized hereditary pilar hamartoma' for which they proposed the name 'fibrofolliculoma', to be distinguished from the perifollicular fibromas as reported by Hornstein and Knickenberg. Today, many authors believe that 'fibrofolliculoma' is identical with 'perifollicular fibroma', but for the purpose of the present article this question can be left open. More importantly, the Canadian authors did not mention any association with extracutaneous cancer proneness within the large family examined in Winnipeg, nor when discussing the report from Erlangen, which means that they have neither described nor redescribed the syndrome that presently bears their names. Hence, the autosomal dominant disorder of multiple perifollicular fibromas heralding proclivity to extracutaneous cancer should be called after the original authors, Hornstein-Knickenberg syndrome.

Eponyms in cardiothoracic radiology: part III--interstitium.

Eponyms serve the purpose of honoring individuals who have made important observations and discoveries. As with other fields of medicine, eponyms are frequently encountered in radiology, particularly in chest radiology. However, inappropriate use of an eponym may lead to potentially dangerous miscommunication. Moreover, an eponym may honor the incorrect person or a person who falls into disrepute. Despite their limitations, eponyms are still widespread in the medical literature. Furthermore, in some circumstances, more than one individual may have contributed to the description or discovery of a particular anatomical structure or disease, whereas in others, an eponym may have been incorrectly applied initially and propagated for years in the medical literature. Nevertheless, radiologic eponyms are a means of honoring those who have made lasting contributions to the field of radiology, and familiarity with these eponyms is critical for proper reporting and accurate communication. In addition, the acquisition of some historical knowledge about those whose names are associated with various structures or pathologic conditions conveys a sense of humanity in the science of medicine. In this third installment of this series, the authors discuss a number of chest radiology eponyms as they relate to the pulmonary interstitium, including relevant clinical and imaging features, as well biographical information of the respective eponym's namesake.

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

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.