Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome

Pediatr Dermatol. 2020 Mar;37(2):333-336. doi: 10.1111/pde.14075. Epub 2019 Dec 22.

Abstract

H syndrome (OMIM 6027820) is a novel form of histiocytosis affecting multiple organs with peculiar cutaneous manifestations. It is an autosomal recessive genodermatosis caused by pathogenic mutations in SLC29A3 that encodes the human equilibrative nucleoside transporter, hENT3. The cutaneous manifestations can mimic other sclerodermoid conditions. We present a 15-year-old boy diagnosed with H syndrome with typical clinical features and homozygosity for a novel pathogenic mutation.

Keywords: genodermatoses; histiocytic disorders.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Contracture / diagnosis*
  • Contracture / genetics*
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics*
  • Histiocytosis / diagnosis*
  • Histiocytosis / genetics*
  • Homozygote*
  • Humans
  • Male
  • Mutation / genetics*
  • Nucleoside Transport Proteins / genetics*

Substances

  • Nucleoside Transport Proteins
  • SLC29A3 protein, human

Supplementary concepts

  • Histiocytosis with joint contractures and sensorineural deafness