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Rheumatological manifestations of H syndrome
- Source :
- Rheumatology, Vol 62, Iss 4, Pp 294-303 (2024)
- Publication Year :
- 2024
- Publisher :
- Termedia Publishing House, 2024.
-
Abstract
- H syndrome (HS) is a rare autosomal recessive genodermatosis characterised by cutaneous hyper­pigmentation, hypertrichosis, sclerodermatous thickening, and multisystemic involvement. It results from mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter 3, leading to impaired histiocyte apoptosis and unchecked proliferation. We report the case of a 24-year-old Moroccan male who had a history of insulin-dependent diabetes mellitus. He deve­loped hyperpigmented skin patches with hypertrichosis and induration. Musculoskeletal findings included bilateral hallux valgus, pes planus, reducible flexion contractures of the proximal interphalangeal joints, and restricted ankle dorsiflexion. Additional findings consist of lymphadenopathy, hepatomegaly, hypogonadism, and ophthalmic manifestations. Investigations showed elevated sedimentation rate, anaemia, and osteopaenia. Ankle ultrasound revealed calcaneal enthesopathy and subcutaneous infiltration. In reporting this case, we aim to highlight the significant rheumatological involvement that can arise in patients with H syndrome and explore potential treatment options to improve the musculoskeletal findings.
- Subjects :
- histiocytosis
hallux valgus
slc29a3
h syndrome
Medicine
Subjects
Details
- Language :
- English
- ISSN :
- 00346233 and 20849834
- Volume :
- 62
- Issue :
- 4
- Database :
- Directory of Open Access Journals
- Journal :
- Rheumatology
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.6fdd5de2958741078498eaa92bb46853
- Document Type :
- article
- Full Text :
- https://doi.org/10.5114/reum/191751