H syndrome with Arnold-Chiari malformation due to a novel SLC29A3 mutation.

Abstract

H syndrome is an autosomal recessive inherited skin disorder caused by biallelic mutations in the SLC29A3 gene. A rare case of H syndrome is described in an 11-year-old girl, who presented with characteristic hyperpigmented and hypertrichotic plaques, skeletal deformities, sensorineural hearing loss, and multiorgan involvement. In particular, MRI revealed Arnold-Chiari malformation, a previously unreported association. Histological findings of dermal collagenization with CD68 positive histiocytic infiltrate and the novel homozygous SLC29A3 mutation in whole exome sequencing confirmed the diagnosis.