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[Multiple spontaneous pneumothoraces revealing Birt-Hogg-Dube syndrome].
Rev Mal Respir. 2011 Mar; 28(3):355-9.RM

Abstract

The Birt-Hogg-Dubé (BHD) syndrome is associated with cutaneous disorders including fibrofolliculomas and trichodiscomas, and also lung pneumatocysts and kidney tumours. The BHD syndrome occurs as a consequence of an autosomal dominantly inherited genodermatosis, linked to multiple germline mutations in the 14 exons of the BHD gene, mapped on 17p11.2 and encoding for folliculin (FLCN). The size and number of lung pneumatocysts are extremely variable and the cysts are surrounded by normal pulmonary tissue. In the absence of smoking lung function is usually unimpaired. The lung cysts are frequently complicated by the development of recurrent pneumothoraces. Treatment of pneumothorax in patients with the BHD syndrome is similar to the approach taken for patients with spontaneous pneumothorax. Lung cysts in the BHD syndrome are a rare cause of cystic pulmonary lesions. However, they must be systematically evaluated since kidney tumours occur in one third of patients. We report a case of classical BHD syndrome with specific cutaneous involvement, recurrent pneumothoraces complicating lung cysts, an exon 12 germline mutation on BHD gene and a familial history suggesting other related cases. This observation allows us to update this orphan disease, to consider BHD in the differential diagnosis of lung cysts and, above all, to highlight the high frequency and the prognostic significance of associated kidney tumours.

Authors+Show Affiliations

Service de pneumologie, pavillon médical, centre hospitalier Lyon-Sud, hospices civils de Lyon, université Claude-Bernard, 165 chemin du Grand-Revoyet, Pierre-Bénite cedex, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

21482341

Citation

Van Denhove, A, et al. "[Multiple Spontaneous Pneumothoraces Revealing Birt-Hogg-Dube Syndrome]." Revue Des Maladies Respiratoires, vol. 28, no. 3, 2011, pp. 355-9.
Van Denhove A, Guillot-Pouget I, Giraud S, et al. [Multiple spontaneous pneumothoraces revealing Birt-Hogg-Dube syndrome]. Rev Mal Respir. 2011;28(3):355-9.
Van Denhove, A., Guillot-Pouget, I., Giraud, S., Isaac, S., Freymond, N., Calender, A., Pacheco, Y., & Devouassoux, G. (2011). [Multiple spontaneous pneumothoraces revealing Birt-Hogg-Dube syndrome]. Revue Des Maladies Respiratoires, 28(3), 355-9. https://doi.org/10.1016/j.rmr.2010.08.015
Van Denhove A, et al. [Multiple Spontaneous Pneumothoraces Revealing Birt-Hogg-Dube Syndrome]. Rev Mal Respir. 2011;28(3):355-9. PubMed PMID: 21482341.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Multiple spontaneous pneumothoraces revealing Birt-Hogg-Dube syndrome]. AU - Van Denhove,A, AU - Guillot-Pouget,I, AU - Giraud,S, AU - Isaac,S, AU - Freymond,N, AU - Calender,A, AU - Pacheco,Y, AU - Devouassoux,G, Y1 - 2011/02/23/ PY - 2010/02/20/received PY - 2010/08/31/accepted PY - 2011/4/13/entrez PY - 2011/4/13/pubmed PY - 2011/9/13/medline SP - 355 EP - 9 JF - Revue des maladies respiratoires JO - Rev Mal Respir VL - 28 IS - 3 N2 - The Birt-Hogg-Dubé (BHD) syndrome is associated with cutaneous disorders including fibrofolliculomas and trichodiscomas, and also lung pneumatocysts and kidney tumours. The BHD syndrome occurs as a consequence of an autosomal dominantly inherited genodermatosis, linked to multiple germline mutations in the 14 exons of the BHD gene, mapped on 17p11.2 and encoding for folliculin (FLCN). The size and number of lung pneumatocysts are extremely variable and the cysts are surrounded by normal pulmonary tissue. In the absence of smoking lung function is usually unimpaired. The lung cysts are frequently complicated by the development of recurrent pneumothoraces. Treatment of pneumothorax in patients with the BHD syndrome is similar to the approach taken for patients with spontaneous pneumothorax. Lung cysts in the BHD syndrome are a rare cause of cystic pulmonary lesions. However, they must be systematically evaluated since kidney tumours occur in one third of patients. We report a case of classical BHD syndrome with specific cutaneous involvement, recurrent pneumothoraces complicating lung cysts, an exon 12 germline mutation on BHD gene and a familial history suggesting other related cases. This observation allows us to update this orphan disease, to consider BHD in the differential diagnosis of lung cysts and, above all, to highlight the high frequency and the prognostic significance of associated kidney tumours. SN - 1776-2588 UR - https://www.unboundmedicine.com/medline/citation/21482341/[Multiple_spontaneous_pneumothoraces_revealing_Birt_Hogg_Dube_syndrome]_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0761-8425(11)00042-8 DB - PRIME DP - Unbound Medicine ER -