The H syndrome: a recently defined autosomal recessive genodermatosis

Abstract

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. Key words: H syndrome; Winchester syndrome; POEMS syndrome