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Abstract：
BACKGROUND H syndrome is an autosomal recessive disorder of histiocytic proliferation with clinical spectrum of unique cutaneous and systemic manifestations. There is no consistent treatment for the disease, and all available options are based on case reports. Here, we present the chronological progression of a case of H syndrome with typical cutaneous manifestations that was misdiagnosed early as meningitis-induced sensorineural hearing loss and later as a non-defined autoimmune connective tissue disease. A new tried, although failed, treatment option is described as well. CASE REPORT A 31-year-old Saudi woman born of a consanguineous marriage presented to our dermatology clinic with symmetrical indurated hyperpigmented to violaceous plaques over the medial thighs, upper legs, lower back, volar wrists, and upper arms, associated with hypertrichosis. Hallux valgus of the big toes was clinically detected as well. She had a history of sensorineural deafness, diabetes mellitus, chronic anemia, and hypothyroidism. Genetic analysis of the patient showed a homozygous frameshift pathogenic variant of the SLC29A3 gene, c.243del p.(Lys81Asnfs*20). Systemic treatments in the form of methotrexate and imatinib had been tried; however, both failed to control her sclerotic cutaneous changes. CONCLUSIONS Knowing the early life presentation and the variable clinical symptoms of H syndrome is crucial in early intervention and further prevention of the non-reversible changes. Moreover, avoiding unnecessary immunosuppressive medication use is warranted in certain circumstances.
摘要：
背景技术H综合征是组织细胞增殖的常染色体隐性遗传疾病,具有独特的皮肤和全身表现的临床谱。这种疾病没有一致的治疗方法，所有可用选项均基于病例报告。这里,我们介绍了一例具有典型皮肤表现的H综合征,早期误诊为脑膜炎诱发的感音神经性耳聋,后来误诊为非明确的自身免疫性结缔组织病.一个新的尝试，虽然失败了,还描述了治疗选择。案例报告一名31岁的沙特妇女出生于近亲婚姻，被送到我们的皮肤科诊所，大腿内侧有对称的硬结色素沉着至紫罗兰斑块，大腿,下背部,掌侧手腕,和上臂，与多毛症有关。临床上也检测到大脚趾的hallux外翻。她有过感音神经性耳聋的病史,糖尿病,慢性贫血,和甲状腺功能减退。患者的遗传分析显示SLC29A3基因的纯合移码致病变体，c.243delp.（Lys81Asnfs*20）。已经尝试了甲氨蝶呤和伊马替尼形式的全身性治疗；然而，都无法控制她皮肤硬化的变化.结论了解H综合征的早期生活表现和可变的临床症状对于早期干预和进一步预防不可逆变化至关重要。此外，在某些情况下,避免使用不必要的免疫抑制药物是必要的.
