The First Case of H Syndrome in Japan

Abstract

A 14-year-old Japanese girl presented with complaints of the archetypal thigh, abdomen hyperpigmentation, induration, hypertrichosis, and congenital bilateral hearing loss. The maternal grandmother and paternal grandfather were cousins. This patient had been previously reported as a morphea profunda, but was revealed to be the first recorded case of H syndrome in Japan. The H syndrome (OMIM #612391) is a recently characterized autosomal recessive disorder caused by mutations in SLC29A3, which encodes the human equilibrative nucleoside transporter 3 (hENT3). Mutation analysis revealed a novel homozygous missense mutation, c.552C>G.