Departments of Pathology and Dermatology, Rutgers-New Jersey Medical School, Newark, New Jersey, USA.
Departments of Pathology and Dermatology, Rutgers-New Jersey Medical School, Newark, New Jersey, USA.
Clin Dermatol. 2022 Nov-Dec;40(6):700-705. doi: 10.1016/j.clindermatol.2022.07.014. Epub 2022 Jul 28.
Birt-Hogg-Dubé syndrome is an uncommon autosomal dominant systemic disorder with cutaneous findings notable for fibrofolliculomas or trichodiscomas on the scalp, face, neck, and trunk. These cutaneous signs are associated with bilateral renal cell carcinoma, benign renal cysts, pulmonary cysts, and spontaneous pneumothorax. Given its autosomal dominant inheritance pattern, the successful diagnosis of Birt-Hogg-Dubé syndrome (BHDS) may elucidate a diagnosis in family members. BHDS results from a mutation in the FLCN gene encoding the folliculin protein, a transcriptional regulator of the mammalian target of rapamycin signaling pathway. Like tuberous sclerosis, BHDS's clinical features may subside with the use of oral rapamycin for mammalian target of rapamycin inhibition, a theoretical concept meriting exploration. Although its prevalence in the general population has been estimated at 2 cases per million, BHDS has been detected in a few patients from the nearby Portuguese-lineage quarter of the city of Newark, a disproportionate prevalence possibly explained by the founder effect.
Birt-Hogg-Dubé 综合征是一种罕见的常染色体显性遗传全身性疾病，其皮肤表现为头皮、面部、颈部和躯干的纤维毛囊瘤或毳毛囊肿。这些皮肤表现与双侧肾细胞癌、良性肾囊肿、肺囊肿和自发性气胸相关。鉴于其常染色体显性遗传模式，Birt-Hogg-Dubé 综合征 (BHDS) 的成功诊断可能会阐明家族成员的诊断。BHDS 是由编码滤泡素蛋白的 FLCN 基因突变引起的，滤泡素蛋白是雷帕霉素哺乳动物靶标信号通路的转录调节剂。与结节性硬化症一样，BHDS 的临床特征可能会随着雷帕霉素的使用而消退，雷帕霉素可抑制哺乳动物靶标，这一理论概念值得探索。尽管其在普通人群中的患病率估计为每百万人中有 2 例，但在纽瓦克市附近葡萄牙裔社区的少数患者中也检测到了 BHDS，这种不成比例的患病率可能可以用创始效应来解释。
