A case report of H‐syndrome from Baghdad Medical City treated with tocilizumab

Awadh, Nabaa Ihsan; Gorial, Faiq I.; Hashim, Hashim Talib; Al-Obaidi, Ahmed Dheyaa; Al-Obaidi, Mustafa Najah; AlNoori, Ali H; Al-Janabi, Wesal K.

doi:10.1002/ccr3.6775

Clinical Case Reports

2022

DOI: 10.1002/ccr3.6775

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A case report of H‐syndrome from Baghdad Medical City treated with tocilizumab

Nabaa Ihsan Awadh

Faiq I. Gorial

Hashim Talib Hashim

et al.

Abstract: This case report presents the first H‐syndrome rarity in Iraq, a 12‐year‐old female patient who was attending the Rheumatology out clinic for progressive hands joint deformities. She has a history of a multi‐systemic collection of diseases with various clinical features that include beta thalassemia minor, sensorineural deafness, and celiac disease.

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2024

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Rheumatological manifestations of H syndrome

Rahma,

Tahiri,

Cherkaoui Dekkaki

et al. 2024

Reumatologia

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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 <i>SLC29A3</i> 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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Rheumatological manifestations of H syndrome

Rahma,

Tahiri,

Cherkaoui Dekkaki

et al. 2024

Reumatologia

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A case report of H‐syndrome from Baghdad Medical City treated with tocilizumab

Cited by 1 publication

References 6 publications

Rheumatological manifestations of H syndrome

Rheumatological manifestations of H syndrome

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