PDF(Pubmed)
Abstract：
Birt-Hogg-Dubé syndrome, an extremely rare genetic disorder, is characterized by the development of fibrofolliculomas, lung cysts and subsequent recurrent pneumothorax, and kidney neoplasia. This report highlights the case of a 56-year-old female with a history of right vestibular schwannoma status post stereotactic radiotherapy and vulva bartholin\'s gland carcinoma who was initially evaluated by primary care for a 6-month history of intermittent, red, raised, widespread rash accompanied by fever, chills, and body aches. A punch biopsy of the rash was performed, which was notable for an urticarial tissue reaction with focal changes of leukocytoclasia and negative direct immunofluorescence. Laboratory tests, which included an autoimmune genetic and periodic fever panel, were unremarkable. Whole genome sequencing returned positive for a pathogenic variant in folliculin gene, consistent with a diagnosis of Birt-Hogg-Dubé syndrome.
摘要：
Birt-Hogg-Dubé综合征,一种极为罕见的遗传疾病,以纤维叶瘤的发展为特征，肺囊肿和随后的复发性气胸，和肾脏肿瘤。本报告重点介绍了一例56岁的女性，在立体定向放疗后患有右前庭神经鞘瘤和外阴bartholin’s腺癌，最初由初级保健评估为6个月的间歇性病史，红色,举起,广泛的皮疹伴有发烧，发冷,和身体疼痛。对皮疹进行了穿刺活检，值得注意的是荨麻疹组织反应，伴有白细胞克隆性局灶性改变和直接免疫荧光阴性。实验室测试,其中包括一个自身免疫遗传和周期性发烧小组，平淡无奇。全基因组测序对foliculin基因的致病性变异呈阳性，与Birt-Hogg-Dubé综合征的诊断一致.
