Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome
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چکیده
منابع مشابه
Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome (BHDS) is a rare form of classically cystic lung disease that may present with spontaneous pneumothorax. The associated skin manifestations (fibrofolliculomas) are not always present. This article describes a case of spontaneous pneumothorax secondary to bullous emphysema in an otherwise healthy gentleman caused by a novel mutation in the folliculin (FLCN) gene.
متن کاملBirt-Hogg-Dube syndrome is a novel ciliopathy.
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder where patients are predisposed to kidney cancer, lung and kidney cysts and benign skin tumors. BHD is caused by heterozygous mutations affecting folliculin (FLCN), a conserved protein that is considered a tumor suppressor. Previous research has uncovered multiple roles for FLCN in cellular physiology, yet it remains unclear how the...
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Background: Here we present a case of 56 year old female who presented with mild shortness of breath and right side pain. Chest tomography indicated bilateral bullous pulmonary lesions as the causal of the patient’s discomfort and pain. The patient had familial history of cancer and pneumothorax, and had undergone surgery on the left lung due to bullous lesion and pneumothorax. The patient has ...
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Patients with Birt-Hogg-Dube syndrome have an increased risk of developing hamartomas of the pilosebaceous unit, renal tumors of various types, lung cysts, and spontaneous pneumothorax. We present the case of a 54-year-old woman with a long history of whitish papules in the central region of the face and a family history of similar lesions. Biopsy and genetic study revealed a new mutation of th...
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ژورنال
عنوان ژورنال: Respiratory Medicine Case Reports
سال: 2016
ISSN: 2213-0071
DOI: 10.1016/j.rmcr.2016.08.006