PDF(Pubmed)
Abstract：
Birt-Hogg-Dubé syndrome (BHDS) is a rare hereditary autosomal dominant condition characterized by benign cutaneous lesions, lung cysts, and increased risk of spontaneous pneumothorax and renal cancer. We report a case of a young Indian boy with bilateral pneumothorax as the first symptom of BHDS. Detailed history examination and investigation showed multiple facial lesions; his computerized tomography was suggestive of renal angiomyolipoma, hepatic angiomyolipoma, pulmonary cyst with pneumothorax, and small bilateral subependymal soft tissue density lesion with calcification in the brain, all of which were collectively suggestive of BHDS. Identification of the above commonly presented clinical features as a syndrome is important for even a primary care physician so as to ensure the timely management and if required referral to a higher center.
摘要：
Birt-Hogg-Dubé综合征（BHDS）是一种罕见的遗传性常染色体显性疾病，其特征是良性皮肤病变，肺囊肿,自发性气胸和肾癌的风险增加。我们报告了一例印度男孩，双侧气胸是BHDS的首发症状。详细的病史检查和调查显示面部多发性病变；他的计算机断层扫描提示肾血管平滑肌脂肪瘤，肝血管平滑肌脂肪瘤，肺囊肿伴气胸,和小的双侧室管膜下软组织密度病变，并在大脑中钙化，所有这些都共同暗示了BHDS。将上述常见的临床特征识别为综合征对于即使是初级保健医生也很重要，以确保及时管理，并在需要时转诊到更高的中心。
