Familial pneumothoraces: Birt-Hogg-Dubé syndrome.
نویسندگان
چکیده
منابع مشابه
Cystic lung disease in birt-hogg-dubé syndrome: a case series of three patients.
Birt-Hogg-Dubé syndrome is characterized by clinical manifestations such as hamartomas of the skin, renal tumors and lung cysts with spontaneous pneumothoraces. Patients with Birt-Hogg-Dubé syndrome may present with only multiple lung cysts. We report the chest computerized tomography (CT) features of three patients with Birt-Hogg-Dubé syndrome. Each patient had multiple lung cysts of various s...
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 کاملBirt-Hogg-Dubé Syndrome: Answering Questions Raised by a Case Report Published in 1962
In 1962, J.J. Collins from the United States Naval Medical Research Laboratory published an unusual case of air embolism precipitated by decompression in The New England Journal of Medicine [1962;266:595-598]. The case was unusual because it was the first where multiple pulmonary cysts were discovered after a successful recompression treatment. Although various hypotheses were put forward by th...
متن کاملNonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.
RATIONALE Approximately 10% of patients who have a spontaneous pneumothorax have a positive family history. OBJECTIVES We sought to identify DNA sequence variations that confer susceptibility to pneumothoraces. METHODS We collected 12 families that had at least 2 first-degree relatives with a spontaneous pneumothorax. All affected family members had no obvious stigmata of known genetic diso...
متن کاملRenal cancer associated with recurrent spontaneous pneumothorax in Birt-Hogg-Dubé syndrome: a case report and review of the literature
INTRODUCTION Birt-Hogg-Dubé syndrome is a rare genodermatosis characterized by hair follicle hamartomas, renal tumors and spontaneous pneumothorax. We present the case of a patient with pulmonary cysts and recurrent spontaneous pneumothorax. She had typical skin lesions, and was found to have a hybrid oncocytoma which was surgically excised. CASE PRESENTATION A 60-year-old Caucasian woman had...
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ورودعنوان ژورنال:
- Polskie Archiwum Medycyny Wewnetrznej
دوره 126 11 شماره
صفحات -
تاریخ انتشار 2016