Official scientific distribution organ of Instituto Panvascular de Occidente
Repeat pneumothorax as the First Clinical Manifestation of Birt-Hogg-Dubé Syndrome: Case Report

Versions

PDF Reporte de Caso (Spanish)

Keywords

Síndrome Birt Hogg Dubé, fibrofoliculomas, quistes pulmonares, neumotórax.

Categories

How to Cite

1.
Repeat pneumothorax as the First Clinical Manifestation of Birt-Hogg-Dubé Syndrome: Case Report. Rev Med Clin [Internet]. 2022 May 28 [cited 2024 Dec. 25];6(2):e28052206008. Available from: https://mail.medicinaclinica.org/index.php/rmc/article/view/419

Abstract

The Birt Hogg Dube síndrome is a rare autosomal dominant inheritance condition. The most frequent clinical presentation are cutaneous lesions and, later on kidney and pulmonary manifestations. We report the case of a 33-year-old patient with recurrent spontaneus pneumothorax treated with surgery. Although Birt Hogg Dube síndrome is rare, it should be considered as part of the differential diagnosis of spontaneus and recurrent pneumothorax to complete the study and follow-up.

PDF Reporte de Caso (Spanish)

References

Sattler EC, Steinlein OK. Birt-Hogg-Dubé Syndrome. 1993-2002, update 2020. GeneReviews® [Internet]. [updated 2020 Jan 30]. [citado el 4 de marzo de 2022]; Disponible en: https://pubmed.ncbi.nlm.nih.gov/20301695/

Van Denhove A, Guillot-Pouget I, Giraud S, Isaac S, Freymond N, Calender A, et al. Pneumothorax itératifs et spontanés révélant un syndrome de Birt-Hogg-Dubé. Rev Mal Respir [Internet]. 2011;28(3):355–9. Doi: 10.1016/j.rmr.2010.08.015

Montes G, Hoyos AM, Jaramillo-Ayerbe F, Montes G. Síndrome de Birt-Hogg-Dubé. Revistasocolderma.org. [citado el 4 de marzo de 2022]. Disponible en: https://revistasocolderma.org/sites/default/files/sindrome_de_birt-hogg-dube.pdf

Fibla Alfara JJ, Molins López-Rodó L, Hernández Ferrández J, Guirao Montes A. Neumotórax espontáneos de repetición como presentación del síndrome de Birt-Hogg-Dubé. Arch Bronconeumol [Internet]. 2018 [citado el 4 de marzo de 2022];54(7):396–7. Disponible en: https://www.archbronconeumol.org/es-neumotorax-espontaneos-repeticion-como-presentacion-articulo-S0300289617304416

Kennedy JC, Khabibullin D, Henske EP. Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The stretch hypothesis. Semin Cell Dev Biol. 2016;52:47-52. doi:10.1016/j.semcdb.2016.02.014

Kunogi M, Kurihara M, Ikegami TS, Kobayashi T, Shindo N, Kumasaka T, et al. Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. J Med Genet 2010; 47(4):281-7. doi: 10.1136/jmg.2009.070565

Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev [Internet]. 2002 [citado el 4 de marzo de 2022];11(4):393–400. Disponible en: https://pubmed.ncbi.nlm.nih.gov/11927500/

Yoshida K, Miyagawa M, Kido T, Ide K, Sano Y, Sugawara Y, Takahata H, Monden N, Furuya M, Mochizuki T. Parotid Oncocytoma as a Manifestation of Birt-Hogg-Dubé Syndrome. Case Rep Radiol. 2018; doi: 10.1155/2018/6265175

Kluger N, Giraud S, Coupier I, Avril MF, Dereure O, Guillot B, Richard S, Bessis D. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families. Br J Dermatol. 2010;162:527–37. DOI: 10.1111/j.1365-2133.2009.09517.x

Panagiotidis E, Seshadri N, Vinjamuri S. Renal Manifestation of Birt-Hogg-Dubé Syndrome Depicted by 18F-fludeoxyglucose Positron Emission Tomography/Computed Tomography in a Patient with Hurtle Cell Thyroid Malignancy. World J Nucl Med. 2018;17:123–5. doi: 10.4103/wjnm.WJNM_93_16

Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, et al. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med [Internet]. 2007;175(10):1044–53. doi: 10.1164/rccm.200610-1483OC

López V, Jordá E, Monteagudo C. Actualización en el síndrome Birt-Hogg-Dubé. Actas Dermosifiliogr [Internet]. 2012 [citado el 4 de marzo de 2022];103(3):198–206. Disponible en: https://www.actasdermo.org/es-actualizacion-el-sindrome-birt-hogg-dube-articulo-S000173101100367X

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Copyright (c) 2022 Revista de Medicina Clínica

Downloads

Download data is not yet available.