Rahma Honsali, Latifa Tahiri, Sara Cherkaoui-Dekkaki, Fadoua Allali
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引用次数: 0
摘要
H 综合征(HS)是一种罕见的常染色体隐性遗传性皮肤病,以皮肤色素沉着、多毛、硬皮增厚和多系统受累为特征。该病是由于编码人类平衡核苷转运体 3 的 SLC29A3 基因发生突变,导致组织细胞凋亡障碍和增殖失控所致。我们报告了一例 24 岁的摩洛哥男性病例,他曾患有胰岛素依赖型糖尿病。他的皮肤出现色素沉着斑块,伴有多毛和凹陷。肌肉骨骼检查结果包括双侧拇指外翻、趾跖畸形、近端指间关节屈曲挛缩和踝关节外翻受限。其他检查结果包括淋巴腺病、肝肿大、性腺功能减退和眼部表现。检查结果显示血沉增快、贫血和骨质疏松。踝关节超声波检查发现了小腿骨关节病变和皮下浸润。通过报告本病例,我们旨在强调H综合征患者可能出现的严重风湿病,并探讨改善肌肉骨骼病变的潜在治疗方案。
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.