H综合征是一种罕见的常染色体隐性遗传疾病,其特征是以下临床特征:皮肤色素沉着过度,多毛症,肝脾肿大,心脏异常,听力损失,性腺功能减退,身材矮小,外翻,高血糖症,脚趾关节的固定屈曲挛缩,和近端指间关节。在极少数情况下,自身炎症和淋巴组织增生表现也有报道.这种疾病是由于SLC29A3基因的功能缺失突变,其编码平衡核苷转运蛋白ENT3。这种缺乏导致组织细胞的功能异常和增殖。H综合征是组织细胞增生症R组的一部分。我们报告了两个不同的案例,一个在成年时被诊断出来,另一个在童年时被诊断出来。报告的第一个病例是一名37岁的妇女,患有H综合征,患有自身炎症性全身性疾病,该疾病始于成年期(发烧和弥漫性器官浸润),并伴有皮肤,关节,听觉,和儿时的内分泌表现。报告的第二例病例是一名2岁女孩,患有自身炎症,内分泌,皮肤症状(发烧,淋巴结病,器官肿大,生长延迟,和皮肤色素沉着过度)。SLC29A3的纯合突变证实了两种情况下H综合征的诊断。每位患者均接受Tocilizumab治疗,对淋巴增生有显著改善,自身炎症,和皮肤表现。据报道,这两个病例都显示出这种罕见综合征的多种特征,可以在童年或成年期被诊断出来。此外,文献综述表明Tocilizumab有效.
H syndrome is a rare autosomal recessive genetic disorder characterized by the following clinical features: cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, hyperglycemia, fixed flexion contractures of the toe joints, and the proximal interphalangeal joints. In rare cases, autoinflammatory and lymphoproliferative manifestations have also been reported. This disorder is due to loss-of-function mutations in
SLC29A3 gene, which encode the equilibrative nucleoside transporter ENT3. This deficiency leads to abnormal function and proliferation of histiocytes. H syndrome is part of the R-group of histiocytosis. We report two different cases, one was diagnosed in adulthood and the other in childhood. The first case reported is a 37-year-old woman suffering from H syndrome with an autoinflammatory systemic disease that begins in adulthood (fever and diffuse organ\'s infiltration) and with cutaneous, articular, auditory, and endocrinological manifestations since childhood. The second case reported is a 2-year-old girl with autoinflammatory, endocrine, and cutaneous symptoms (fever, lymphadenopathy, organomegaly, growth delay, and cutaneous hyperpigmentation). Homozygous mutations in
SLC29A3 confirmed the diagnosis of H syndrome in both cases. Each patient was treated with Tocilizumab with a significant improvement for lymphoproliferative, autoinflammatory, and cutaneous manifestations. Both cases were reported to show the multiple characteristics of this rare syndrome, which can be diagnosed either in childhood or in adulthood. In addition, an overview of the literature suggested Tocilizumab efficiency.