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CASE-BASED REVIEW
Rheumatological manifestations of H syndrome
1
Rheumatology Department B, Al Ayachi Hospital, Ibn Sina Hospital Centre, Mohammed V University, Rabat, Morocco
2
Faculty of Medicine and Pharmacy of Rabat, Mohammed V University, Rabat, Morocco
Submission date: 2024-04-29
Final revision date: 2024-07-15
Acceptance date: 2024-07-29
Publication date: 2024-09-16
Corresponding author
Honsali Rahma
Rheumatology Department B, Al Ayachi Hospital, Street Al Ayachi – Bab al-Bahr, Sale 11150, Morocco
Rheumatology Department B, Al Ayachi Hospital, Street Al Ayachi – Bab al-Bahr, Sale 11150, Morocco
Reumatologia 2024;62(4):294-303
KEYWORDS
TOPICS
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.
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| eISSN: | 2084-9834 |
| ISSN: | 0034-6233 |
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