豹纹综合征研究进展

Progress in research of leopard syndrome

豹纹综合征是罕见的常染色体显性遗传性疾病,主要由PTPN11、RAF1和BRAF基因突变致病,以多发性雀斑样痣、颅面畸形、心电传导缺陷、肥厚型心肌病、生殖器异常、生长发育迟缓和感音神经性耳聋为主要表现,缺乏特效治疗。本文总结了豹纹综合征的遗传学、皮损特征、系统表现、鉴别和愈后等相关研究报道的进展,提高临床医师对该病的认识,进行早期诊断和相关风险评估,改善预后。

Leopard syndrome is a rare autosomal dominant genetic disease caused by genetic mutations of PTPN11 RAF1,and BRAF.It is characterized by multiple lentigines,craniofacial deformity,electrocardiographic abnormalities,hypertrophic cardiomyopathy,abnormal genitalia,retardation of growth,and sensorineural deafness without particular treatment.This article summarizes the recent progress in the research of the genetics,skin characteristics,systemic manifestations,differential diagnosis,and prognosis of this disease to raise clinicians′awareness about this genetic disorder to improve its early diagnosis,risk assessment,and prognosis.