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

• Published in: BMC medical genomics Vol. 15; no. 1; p. 84
• Main Authors: van de Beek, Irma, van Steensel, Maurice A M, Houweling, Arjan C
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 15.04.2022; BioMed Central; BMC
• Subjects: Birt-Hogg-Dube syndrome; Birt-Hogg-Dube Syndrome - complications; Birt-Hogg-Dube Syndrome - diagnosis; Birt-Hogg-Dube Syndrome - genetics; Birt-Hogg-Dubé syndrome; Cancer; Case reports; Case studies; Colorectal Neoplasms; Connective tissue; Correspondence; Cysts; Diagnosis; Gastrointestinal system; Gastrointestinal tract; Genetic aspects; Health aspects; Health risk assessment; Histology; Humans; Hyperplasia; Hyperplastic polyposis; Intestinal polyps; Literature reviews; Mutation; Patient outcomes; Patients; Pneumothorax; Polyposis; Polyps; Risk factors; Tumors; Netherlands; Singapore; Birt-Hogg-Dubé syndrome; Hyperplastic polyposis
• ISSN: 1755-8794; 1755-8794
• DOI: 10.1186/s12920-022-01229-5

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.