国际皮肤性病学杂志
國際皮膚性病學雜誌
국제피부성병학잡지
INTERNATIONAL JOURNAL OF DERMATOLOGY AND VENEREOLOGY
2013年
2期
89-91
,共3页
H综合征%Winchester综合征%POEMS综合征
H綜閤徵%Winchester綜閤徵%POEMS綜閤徵
H종합정%Winchester종합정%POEMS종합정
H syndrome%Winchester syndrome%POEMS syndrome
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.
H綜閤徵是最近命名的一種伴有全身多繫統錶現的常染色體隱性遺傳性皮膚病,由編碼覈轉錄因子hENT3的SLC29A3基因突變所緻.該病有多種特徵性的皮膚錶現,如進行性皮膚硬化、色素沉著、多毛以及多箇其他繫統的錶現,如肝脾腫大、心髒異常、聽力減退、性腺功能減退癥、身材矮小、拇趾外翻、足跟外翻、槌狀腳趾和高血糖等.臨床上,本病需與POEMS綜閤徵和Winchester綜閤徵鑒彆.
H종합정시최근명명적일충반유전신다계통표현적상염색체은성유전성피부병,유편마핵전록인자hENT3적SLC29A3기인돌변소치.해병유다충특정성적피부표현,여진행성피부경화、색소침착、다모이급다개기타계통적표현,여간비종대、심장이상、은력감퇴、성선공능감퇴증、신재왜소、무지외번、족근외번、퇴상각지화고혈당등.림상상,본병수여POEMS종합정화Winchester종합정감별.
The 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.
