摘要H综合征是最近命名的一种伴有全身多系统表现的常染色体隐性遗传性皮肤病,由编码核转录因子hENT3的SLC29A3基因突变所致.该病有多种特征性的皮肤表现,如进行性皮肤硬化、色素沉着、多毛以及多个其他系统的表现,如肝脾肿大、心脏异常、听力减退、性腺功能减退症、身材矮小、拇趾外翻、足跟外翻、槌状脚趾和高血糖等.临床上,本病需与POEMS综合征和Winchester综合征鉴别.

abstractsThe H syndrome,a recently defined autosomal recessive genodermatosis with systemic involvement,is caused by mutations in the SLC29A3 gene encoding the equilibrative nucleoside transporter hENT3.It is clinically characterized by many cutaneous changes such as progressive sclerosis,hyperpigmentation,and hypertrichosis,and is also associated with abnormalities of other organs,such as hepatosplenomegaly,heart anomalies,hearing loss,hypogonadism,low height,hallux valgus,hammertoe deformity,hyperglycemia,etc.The differential diagnosis must be made with polyneuropathy,organomegaly,endocrinopathy,M-protein,skin change (POEMS) syndrome and Winchester syndrome.