Cases with the H syndrome presenting with skin and bone findings.


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Kose H., Baskaya M. D., Kilic S. Ş.

The Australasian journal of dermatology, 2024 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume:
  • Publication Date: 2024
  • Doi Number: 10.1111/ajd.14235
  • Journal Name: The Australasian journal of dermatology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE
  • Bursa Uludag University Affiliated: Yes

Abstract

BackgroundThe H syndrome is an autosomal recessive disease characterized by hyperpigmentation, hypertrichosis and sensorineural hearing loss.MethodsA 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.ResultsThe first patient exhibits hyperpigmentation, hypogonadism, Type 1 diabetes mellitus, arthritis and osteoporosis. The second patient experiences hyperpigmentation, hypertrichosis, osteopenia and hypogonadism.ConclusionOur 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.