Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature

Autor:	Irma van de Beek, Maurice A. M. van Steensel, Arjan C. Houweling
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	Birt-Hogg-Dubé syndrome Hyperplastic polyposis Internal medicine RC31-1245 Genetics QH426-470
Zdroj:	BMC Medical Genomics, Vol 15, Iss 1, Pp 1-4 (2022)
Druh dokumentu:	article
ISSN:	1755-8794
DOI:	10.1186/s12920-022-01229-5
Popis:	Abstract The publication by Balsamo and colleagues describes a patient with Birt-Hogg-Dubé syndrome and hyperplastic polyposis throughout the gastro-intestinal tract. We question whether the diagnosis of BHD in this patient was justified. Using the previously proposed diagnostic criteria for establishing the diagnosis of BHD as a guideline, we systematically describe our concerns. In our opinion, the patient described by Balsamo and colleagues does not meet any of the proposed major and minor criteria for the diagnosis of Birt-Hogg-Dubé syndrome. Therefore, we believe that it is not justified to suggest a possible association between hyperplastic polyposis and Birt-Hogg-Dubé syndrome based on this patient, even though a higher risk for colorectal polyposis in Birt-Hogg-Dubé syndrome has not been excluded so far.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/dc465f720f754a25b056be7757f093cc Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.