Birt-Hogg-Dube syndrome: a rare cause of cystic lung diseases
نویسندگان
چکیده
منابع مشابه
Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome.
IMPORTANCE The differential diagnosis of extensive open comedones includes inherited genetic syndromes and several acquired conditions. Birt-Hogg-Dube syndrome (BHD) is not typically included in the differential diagnosis of syndromes with comedonal lesions. Given the potentially life-threatening systemic complications associated with BHD, early recognition and diagnosis of the condition is imp...
متن کاملBirt-hogg-dube Syndrome: a Case Report.
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 ...
متن کاملA rare cause of cystic lung disease – Birt-Hogg-Dubé syndrome
Birt-Hogg-Dubé syndrome, initially described in 1977, is an autosomal dominant inherited condition characterised by basal pulmonary cysts often resulting in pneumothorax, renal tumours and cutaneous involvement. Lung cysts have been described in up to 90% of patients with a corresponding risk of pneumothorax of 50 times greater than the normal population. We describe here a case of Birt-Hogg-Du...
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...
متن کاملBirt-Hogg-Dubé syndrome: a rare cause of pulmonary cysts.
2Department of Surgery, Vancouver General Hospital and University of British Columbia, Vancouver, BC, V5Z 1M9 Canada. irt-Hogg-Dubé syndrome is a rare autosomal-dominant inherited disorder characterized by the presence of firm facial papules that on biopsy are shown to represent fibrofolliculomas [1–3]. Patients with Birt-HoggDubé syndrome have a high predisposition to malignant renal tumors, w...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2013
ISSN: 1757-790X
DOI: 10.1136/bcr-2013-008826