Cases with the H syndrome presenting with skin and bone findings

Australas J Dermatol. 2024 Jun;65(4):337-341. doi: 10.1111/ajd.14235. Epub 2024 Feb 29.


Background: The H syndrome is an autosomal recessive disease characterized by hyperpigmentation, hypertrichosis and sensorineural hearing loss.

Methods: A mutation in the coding of the human equilibrative nucleoside transporter 3 (hENT3) within the SLC29A3 gene on chromosome 10q22 leads to the manifestation of this disease. In this report, we present two cases of H syndrome.

Results: The first patient exhibits hyperpigmentation, hypogonadism, Type 1 diabetes mellitus, arthritis and osteoporosis. The second patient experiences hyperpigmentation, hypertrichosis, osteopenia and hypogonadism.

Conclusion: Our objective is to broaden the clinical spectrum of H syndrome, highlighting the involvement of arthritis, hyperinflammation and low bone mineral density in individuals with this disorder.

Keywords: H syndrome; hENT3; hyperpigmentation; hypertricosis; osteoporosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arthritis / genetics
  • Bone Diseases, Metabolic / genetics
  • Diabetes Mellitus, Type 1 / complications
  • Diabetes Mellitus, Type 1 / genetics
  • Female
  • Hearing Loss, Sensorineural* / genetics
  • Humans
  • Hyperpigmentation* / genetics
  • Hyperpigmentation* / pathology
  • Hypertrichosis* / genetics
  • Hypogonadism / genetics
  • Male
  • Nucleoside Transport Proteins* / genetics
  • Osteoporosis*
  • Syndrome


  • SLC29A3 protein, human
  • Nucleoside Transport Proteins