Cases with the H syndrome presenting with skin and bone findings

Hulya Kose; Merve Deniz Baskaya; Sara Sebnem Kilic

doi:10.1111/ajd.14235

Cases with the H syndrome presenting with skin and bone findings

Australas J Dermatol. 2024 Feb 29. doi: 10.1111/ajd.14235. Online ahead of print.

Authors

Hulya Kose¹, Merve Deniz Baskaya¹, Sara Sebnem Kilic¹

Affiliation

¹ Department of Pediatric Immunology and Rheumatology, Uludag University Faculty of Medicine, Bursa, Turkey.

PMID: 38421823
DOI: 10.1111/ajd.14235

Abstract

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.