一例经诊断为Birt-Hogg-Dubé综合征的复发性气胸和皮肤病变病例。
A case of recurrent pneumothorax and skin lesions diagnosed with Birt-Hogg-Dubé.
作者信息
Takaldani Ali Hossein Samadi, Negaresh Mohammad, Jalalzadeh Solmaz, Lotfi Leila, Ghobadi Hassan
机构信息
Department of Internal Medicine (Pulmonary Division), School of Medicine, Ardabil University of Medical Sciences, Ardabil, Iran.
Resident of Internal Medicine, Students Research Committee, Faculty of Medicine, Ardabil University of Medical Sciences, Ardabil, Iran.
出版信息
Oxf Med Case Reports. 2022 May 23;2022(5):omac054. doi: 10.1093/omcr/omac054. eCollection 2022 May.
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disease that is manifested as benign cutaneous tumors, multiple lung parenchymal cysts and an increased risk of renal cancer. Its symptoms usually do not appear until adulthood. We report a patient who was admitted with recurrent pneumothorax. Discovering typical cutaneous lesions accompanied with a history of the same condition in his son, BHD syndrome was diagnosed.
Birt-Hogg-Dubé（BHD）综合征是一种常染色体显性疾病，表现为良性皮肤肿瘤、多个肺实质囊肿以及肾癌风险增加。其症状通常直到成年期才会出现。我们报告了一名因复发性气胸入院的患者。发现其有典型皮肤病变且其子有相同病史后，该患者被诊断为BHD综合征。
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