H syndrome: novel and recurrent mutations in SLC29A3

Br J Dermatol. 2010 May;162(5):1132-4. doi: 10.1111/j.1365-2133.2010.09653.x. Epub 2010 Feb 25.

Abstract

The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2) Histologically, there is an inflammatory infiltrate consisting mainly of histiocytes, later replaced by fibrosis of the deep dermis and subcutis.(3) In total, 31 patients have been reported in the literature with the clinical phenotype characteristic of this syndrome.(1-7)

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • DNA Mutational Analysis / methods
  • Humans
  • Hyperpigmentation / genetics*
  • Hypertrichosis / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Nucleoside Transport Proteins / genetics*
  • Pedigree
  • Sequence Alignment
  • Skin Diseases, Genetic / genetics*
  • Syndrome
  • Young Adult

Substances

  • Nucleoside Transport Proteins
  • SLC29A3 protein, human