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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Published in | BMC medical genomics Vol. 15; no. 1; p. 84 |
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Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
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BioMed Central Ltd
15.04.2022
BioMed Central BMC |
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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. |
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AbstractList | 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. 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. Keywords: Birt-Hogg-Dubé syndrome, Hyperplastic polyposis 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. 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. |
ArticleNumber | 84 |
Audience | Academic |
Author | van de Beek, Irma Houweling, Arjan C van Steensel, Maurice A M |
Author_xml | – sequence: 1 givenname: Irma orcidid: 0000-0003-1021-171X surname: van de Beek fullname: van de Beek, Irma email: i.beek@amsterdamumc.nl organization: Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands. i.beek@amsterdamumc.nl – sequence: 2 givenname: Maurice A M surname: van Steensel fullname: van Steensel, Maurice A M organization: Lee Kong Chian School of Medicine, Nanyang Technological University, 50 Nanyang Avenue/Singapore Skin Research Institute of Singapore, Agency for Science, Technology and Research, 11 Mandalay Road, Singapore, Singapore – sequence: 3 givenname: Arjan C surname: Houweling fullname: Houweling, Arjan C organization: Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands |
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Cites_doi | 10.1016/S1535-6108(02)00104-6 10.1038/bjc.2011.463 10.1002/ajmg.a.37952 10.1530/ey.17.14.3 10.1038/hgv.2015.13 10.1111/j.1440-0960.2011.00738.x 10.1053/j.gastro.2013.10.045 10.1038/sj.onc.1204703 10.1038/sj.ejhg.5201402 10.1097/GIM.0b013e31803068c7 10.1136/jmg.2007.054304 10.1086/430842 10.1371/journal.pone.0209504 10.1038/ncb839 10.1136/gutjnl-2016-311849 10.1371/journal.pone.0212952 10.1055/s-0034-1393361 10.1159/000475142 10.14814/phy2.12107 10.1016/S1470-2045(09)70188-3 10.1016/j.jaad.2010.11.039 10.18632/oncotarget.25164 10.1002/gcc.20872 10.1111/cge.12807 10.1159/000249169 10.1034/j.1600-0560.2002.290904.x 10.1111/j.1600-0560.1999.tb01792.x 10.2169/internalmedicine.51.7211 10.1038/s41416-019-0693-1 10.1186/s13023-014-0163-z 10.1186/s12881-020-0991-8 10.1067/S0190-9622(03)01582-2 10.1001/archderm.1977.01640120042005 10.1007/BF00582068 10.1136/gutjnl-2016-312773 10.1053/j.ajkd.2011.12.022 10.1136/gutjnl-2017-315733 10.1136/jmedgenet-2019-106374 |
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Keywords | Birt-Hogg-Dubé syndrome Hyperplastic polyposis |
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Snippet | The publication by Balsamo and colleagues describes a patient with Birt-Hogg-Dubé syndrome and hyperplastic polyposis throughout the gastro-intestinal tract.... Abstract The publication by Balsamo and colleagues describes a patient with Birt-Hogg-Dubé syndrome and hyperplastic polyposis throughout the gastro-intestinal... Abstract The publication by Balsamo and colleagues describes a patient with Birt-Hogg-Dubé syndrome and hyperplastic polyposis throughout the gastro-intestinal... |
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SubjectTerms | 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 |
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Title | Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature |
URI | https://www.ncbi.nlm.nih.gov/pubmed/35428286 https://www.proquest.com/docview/2651967794/abstract/ https://search.proquest.com/docview/2651689369 https://pubmed.ncbi.nlm.nih.gov/PMC9012006 https://doaj.org/article/dc465f720f754a25b056be7757f093cc |
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