Birt-Hogg-Dube Syndrome with Multiple Cysts and Recurrent Pneumothorax: Pathological Findings
نویسندگان
چکیده
منابع مشابه
Pneumothorax and Birt–Hogg–Dube syndrome: diagnostic and therapeutic aspects
We report a case of spontaneous recurrent pneumothorax in a 32-year-old male with a family history of Birt–Hogg–Dube syndrome. Specific aspects of the surgical treatment for a pneumothorax within this particular setting are discussed as well as the potential underdiagnosis of this complex genodermatosis. The literature linking the syndrome to spontaneous pneumothorax is reviewed.
متن کاملBirt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors
Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome.
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 Japanese family with multiple lung cysts and recurrent pneumothorax: a possibility of Birt-Hogg-Dubé syndrome.
We herein report a Japanese family lineage, possibly demonstrating Birt-Hogg-Dubé (BHD) syndrome. A 29-year-old nonsmoking woman was admitted to our hospital due to spontaneous pneumothorax. A chest CT showed multiple lung cysts, and breast cancer was simultaneously detected that needed priority surgical treatment. In the family history, the patient's father and half brother also experienced re...
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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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2010
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.49.3670