Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene
نویسندگان
چکیده
Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: p.(Arg379*) in FLCN.
منابع مشابه
[Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene].
Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis characterized by the presence of fibrofolliculomas, renal cancer, pulmonary cysts, and spontaneous pneumothorax. Recently, the folliculin gene responsible for this process has been identified, located on the short arm of chromosome 17. We present the case of a 49-year-old man with multiple whitish papules on the face, neck, and ret...
متن کاملAn inherited cause of pneumothorax--the Birt-Hogg-Dubé syndrome.
A 38-year-old woman presented in 2004 a spontaneous pneumothorax (Figure 1a). Outcome was favorable with treatment with chest tube drainage. Eight years later, she complained of dyspnea. A computed tomography scan of the chest revealed lung cysts (Figure 1b). She presented 2–4mm, white, dome-shaped papules involving the neck, which appeared during the last 2 years. Her brother also presented mu...
متن کاملBirt–Hogg–Dubé syndrome in an Indonesian patient with folliculin gene mutation
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that affects the skin, kidney, and lungs. Affected individuals have an increased risk of developing multiple cysts in the lungs and a spontaneous pneumothorax. Germline mutations in the folliculin (FLCN) gene have been confirmed as the aetiology of BHD syndrome. A 51-year-old Indonesian female presented with recurrent spontaneo...
متن کاملBirt-Hogg-Dubé syndrome in a patient presenting with familial spontaneous pneumothorax.
Birt-Hogg-Dubé (BHD) syndrome is a recently discovered autosomal-dominant disease caused by a mutation in the folliculin gene. We report a patient with familial spontaneous pneumothorax who was found to have BHD syndrome. Patients with a personal and family history of pneumothoraces and computed tomographic (CT) findings of multiple pulmonary cysts should alert the thoracic surgeon to this synd...
متن کاملGenetic Study in a Case of Birt-Hogg-Dubé Syndrome
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominantly inherited disorder characterized by multiple trichodiscomas, fibrofolliculomas, and acrocordons. There is also an increased risk of developing renal neoplasms and lung cysts/spontaneous pneumothorax. We present a 43-year-old man with multiple, 2~4 mm sized, dome-shaped, and skin-colored papules on his cheek and neck. On the basis of clin...
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عنوان ژورنال:
دوره 50 شماره
صفحات -
تاریخ انتشار 2017