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

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...

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Bibliographic Details
Published inBMC medical genomics Vol. 15; no. 1; pp. 84 - 4
Main Authors van de Beek, Irma, van Steensel, Maurice A. M., Houweling, Arjan C.
Format Journal Article
LanguageEnglish
Published London BioMed Central 15.04.2022
BioMed Central Ltd
BMC
Subjects
Biomedical and Life Sciences
Biomedicine
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
Gene Expression
Genetic aspects
Health aspects
Health risk assessment
Histology
Human Genetics
Humans
Hyperplasia
Hyperplastic polyposis
Intestinal polyps
Literature reviews
Microarrays
Mutation
Patient outcomes
Patients
Pneumothorax
Polyposis
Polyps
Risk factors
Tumors
Netherlands
Singapore
Birt-Hogg-Dubé syndrome
Hyperplastic polyposis
Online AccessGet full text
ISSN1755-8794
1755-8794
DOI10.1186/s12920-022-01229-5

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Summary: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.
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ISSN:1755-8794
1755-8794
DOI:10.1186/s12920-022-01229-5