Cases with the H syndrome presenting with skin and bone findings.
The Australasian journal of dermatology, vol.65, no.4, pp.337-341, 2024 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 65 Issue: 4
- 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
- Page Numbers: pp.337-341
- Keywords: H syndrome, hENT3, hyperpigmentation, hypertricosis, osteoporosis
- Open Archive Collection: AVESIS Open Access Collection
- 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.