Recurrent Spontaneous Pneumothorax as the Presenting Sign of the Birt–Hogg–Dubé Syndrome
Authors: Joshua M. Diamond, Robert M. Kotloff
Journal: Annals of Internal Medicine (2009)

Letters17 February 2009Recurrent Spontaneous Pneumothorax as the Presenting Sign of the Birt–Hogg–Dubé SyndromeJoshua M. Diamond, MD and Robert M. Kotloff, MDJoshua M. Diamond, MDFrom the Hospital of the University of Pennsylvania, Philadelphia, PA 19104.Search for more papers by this author and Robert M. Kotloff, MDFrom the Hospital of the University of Pennsylvania, Philadelphia, PA 19104.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-150-4-200902170-00027 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Background: The Birt–Hogg–Dubé syndrome is a rare autosomal dominant disorder, first described in 1977 (1), initially characterized by its chief dermatologic manifestation, cutaneous fibrofolliculoma. We now know that the syndrome is associated with an increased risk for renal tumors and pulmonary cysts. Cysts are found in 90% of patients with the syndrome, resulting in a 24% risk for spontaneous pneumothorax. The underlying pathology is a germline mutation in the tumor suppressor BHD gene encoding folliculin (2).Objective: To report a case of the Birt–Hogg–Dubé syndrome that manifested clinically as recurrent pneumothorax.Case Report: A 33-year-old white woman presented with several ...References1. Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol. 1977;113:1674-7. [PMID: 596896] CrossrefMedlineGoogle Scholar2. 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. 2007;175:1044-53. [PMID: 17322109] CrossrefMedlineGoogle Scholar3. Gunji Y, Akiyoshi T, Sato T, Kurihara M, Tominaga S, Takahashi K, et al. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax [Letter]. J Med Genet. 2007;44:588-93. [PMID: 17496196] CrossrefMedlineGoogle Scholar4. Ayo DS, Aughenbaugh GL, Yi ES, Hand JL, Ryu JH. Cystic lung disease in Birt-Hogg-Dube syndrome. Chest. 2007;132:679-84. [PMID: 17505035] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: From the Hospital of the University of Pennsylvania, Philadelphia, PA 19104.Disclosures: None disclosed. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byThe Genetics of PneumothoraxCase Report of Birt–Hogg–Dubé SyndromeMultiple Cystic Lung DiseasesBirt-Hogg-Dubé Syndrome with Clear Cell Renal Cell Carcinoma in a Chinese FamilyEpidermal Nevi, Neoplasms, and CystsBirt-Hogg-Dubé syndrome: diagnosis and management 17 February 2009Volume 150, Issue 4Page: 289-290KeywordsBiopsyComputed axial tomographyInterstitial lung diseasesLesionsLung and intrathoracic tumorsLungsRenal cell carcinomaRenal diseasesStem cellsThorax ePublished: 17 February 2009 Issue Published: 17 February 2009 Copyright & PermissionsCopyright © 2009 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...