Birt-Hogg-Dubé syndrome: spontaneous pneumothorax as a first symptom
نویسندگان
چکیده
منابع مشابه
Birt-Hogg-Dubé syndrome: an inherited cause of spontaneous pneumothorax.
(height 1.6 m, body mass index 26.4) was referred to the respirology clinic for assessment of recurrent, bilateral, spontaneous pneumothoraces of unknown cause. She had her first spontaneous pneumothorax at the age of 28 years and had a total of six spontaneous pneumothoraces, distributed bilaterally, over the next 28 years. Repeated surgical interventions were done, including bullectomies and ...
متن کاملBirt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene
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...
متن کاملBirt-Hogg-Dubé syndrome*
A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was cor...
متن کاملSpontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients
BACKGROUND Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominantly inherited disorder caused by germline mutations in the folliculin (FLCN) gene. Clinical manifestations of BHD include skin fibrofolliculomas, renal cell cancer, lung cysts and (recurrent) spontaneous pneumothorax (SP). All clinical manifestations usually present in adults > 20 years of age. CASE PRESENTATIONS Two non-rela...
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...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2018
ISSN: 1757-790X
DOI: 10.1136/bcr-2017-219979