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- Title
Cases with the H syndrome presenting with skin and bone findings.
- Authors
Kose, Hulya; Baskaya, Merve Deniz; Kilic, Sara Sebnem
- 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.
- Subjects
TYPE 1 diabetes; HYPERPIGMENTATION; BONE density; NUCLEOSIDE transport proteins; PATIENT experience; SYNDROMES
- Publication
Australasian Journal of Dermatology, 2024, Vol 65, Issue 4, p337
- ISSN
0004-8380
- Publication type
Article
- DOI
10.1111/ajd.14235