Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement. Issue 3 (March 2015)

• Record Type: Journal Article
• Authors: Dal Sasso, Aline Amaral; Belém, Luciana Camara; Zanetti, Gláucia; Souza, Carolina Althoff; Escuissato, Dante Luiz; Irion, Klaus Loureiro; Guimarães, Marcos Duarte; Marchiori, Edson
• Is Part Of: Respiratory medicine. Volume 109:Issue 3(2015)
• Page Start: 289
• Page End: 296
• Publication Date: 2015-03
• Subjects: Chest -- Diseases -- Periodicals; Chest -- Diseases -- Great Britain -- Periodicals; Respiratory organs -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Appareil respiratoire -- Maladies -- Périodiques; Thorax -- Maladies -- Périodiques; Appareil respiratoire -- Maladies -- Traitement -- Périodiques; Electronic journals; 616.2
• DOI: 10.1016/j.rmed.2014.11.008
• Languages: English
• ISSNs: 0954-6111

Abstract

<abstract xml:lang="en" abstract-type="author" id="abs0010"> <title id="sectitle0010">Summary</title> <sec> <title id="sectitle0015">Background</title> <p id="abspara0010">Birt-Hogg-Dubé syndrome (BHDS) is a rare, inherited autosomal-dominant disorder characterized by the development of cutaneous lesions, renal tumors, pulmonary cysts, and spontaneous pneumothorax. The gene responsible for BHDS is located on the short arm of chromosome 17 (17p11.2) and codes for the protein folliculin, which is believed to be an oncogene suppressor protein.</p> </sec> <sec> <title id="sectitle0020">Methods</title> <p id="abspara0015">We reviewed currently published literature on the main characteristics of BHDS.</p> </sec> <sec> <title id="sectitle0025">Results</title> <p id="abspara0020">Pulmonary cysts and spontaneous pneumothorax are often the presenting manifestations that lead to a final diagnosis in family members affected by the syndrome.</p> </sec> <sec> <title id="sectitle0030">Conclusions</title> <p id="abspara0025">Certain imaging characteristics of pulmonary cysts, including size and location, can suggest the diagnosis of BHDS based on chest computed tomography alone. The main concern in patients with BHDS is the increased risk of renal carcinoma. The aim of this review is to describe the main pathological, clinical, and imaging aspects of BHDS, ranging from its genetic basis to treatment, with emphasis on pulmonary involvement.</p> </sec> </abstract>