Abstract：
BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is a genetic condition caused by pathogenic variants in the FLCN gene resulting in benign skin lesions, spontaneous pneumothorax, and increased risk for a variety of renal tumors. Skin manifestations of BHD include trichodiscoma (TD) and fibrofolliculoma (FF), which may represent the same pathologic entity. These lesions can identify BHD patients, who upon positive genetic testing can be considered for life-long surveillance for renal neoplasms.
OBJECTIVE: To characterize patients diagnosed with TD and FF including rates and outcomes of genetics referral.
METHODS: Retrospective chart reviews of patients with confirmed or possible diagnosis of TD or FF at the University of Michigan from September 2002 through October 2020 to assess pathologic findings, personal and family history of BHD manifestations, referral for genetic evaluation, and genetic testing results.
RESULTS: 64 patients had a pathologic diagnosis of TD or FF, 16 of whom (25%) were referred to cancer genetics. Fourteen patients completed genetic evaluation, 9 of whom were diagnosed with BHD (64%), with 6 unique pathogenic variants in FLCN.
CONCLUSIONS: Providers should consider referral for genetic evaluation for patients with biopsy-proven TD or FF, as early diagnosis of BHD provides the opportunity for early detection and treatment of other BHD-associated conditions.
OBJECTIVE: To characterize patients diagnosed with TD and FF including rates and outcomes of genetics referral.
METHODS: Retrospective chart reviews of patients with confirmed or possible diagnosis of TD or FF at the University of Michigan from September 2002 through October 2020 to assess pathologic findings, personal and family history of BHD manifestations, referral for genetic evaluation, and genetic testing results.
RESULTS: 64 patients had a pathologic diagnosis of TD or FF, 16 of whom (25%) were referred to cancer genetics. Fourteen patients completed genetic evaluation, 9 of whom were diagnosed with BHD (64%), with 6 unique pathogenic variants in FLCN.
CONCLUSIONS: Providers should consider referral for genetic evaluation for patients with biopsy-proven TD or FF, as early diagnosis of BHD provides the opportunity for early detection and treatment of other BHD-associated conditions.
摘要：
背景：Birt-Hogg-Dubé（BHD）综合征是由FLCN基因的致病变异导致良性皮肤病变的遗传病，自发性气胸,增加了多种肾脏肿瘤的风险。BHD的皮肤表现包括毛发肉瘤（TD）和纤维叶瘤（FF），可能代表相同的病理实体。这些病变可以识别BHD患者，基因检测阳性的人可以考虑终身监测肾肿瘤。
目的：描述诊断为TD和FF的患者的特征，包括遗传学转诊率和转诊结果。
方法：2002年9月至2020年10月在密歇根大学对确诊或可能诊断为TD或FF的患者进行回顾性图表回顾，以评估病理结果。BHD表现的个人和家族史，基因评估转诊，和基因检测结果。
结果：64例患者病理诊断为TD或FF，其中16人（25％）被称为癌症遗传学。14名患者完成了基因评估，其中9人被诊断为BHD（64％），在FLCN中具有6种独特的致病变体。
结论：提供者应考虑对活检证实为TD或FF的患者进行基因评估转诊，BHD的早期诊断为早期发现和治疗其他BHD相关疾病提供了机会。
目的：描述诊断为TD和FF的患者的特征，包括遗传学转诊率和转诊结果。
方法：2002年9月至2020年10月在密歇根大学对确诊或可能诊断为TD或FF的患者进行回顾性图表回顾，以评估病理结果。BHD表现的个人和家族史，基因评估转诊，和基因检测结果。
结果：64例患者病理诊断为TD或FF，其中16人（25％）被称为癌症遗传学。14名患者完成了基因评估，其中9人被诊断为BHD（64％），在FLCN中具有6种独特的致病变体。
结论：提供者应考虑对活检证实为TD或FF的患者进行基因评估转诊，BHD的早期诊断为早期发现和治疗其他BHD相关疾病提供了机会。
