Elmansour Osama Khder Ahmed, Babikir Ahmed Osama Ahmed
Department of Internal Medicine, Shendi University, Faculty of Medicine, Shendi, SDN.
Department of Pathology, Shendi University, Faculty of Medicine, Shendi, SDN.
Cureus. 2022 Mar 17;14(3):e23281. doi: 10.7759/cureus.23281. eCollection 2022 Mar.
H syndrome is an autosomal recessive multisystemic disease with a very low prevalence rate, characterized by indurated cutaneous hyperpigmentation, hypertrichosis, and various systemic manifestations. The syndrome is caused by mutations in SLC29A3 gene on chromosome 10q23, encoding for human equilibrative transporter 3 (hENT3). So far, only 100-120 patients with H syndrome have been described in the literature, with predominance among Indian, North-American, and Arab ethnicities. This case report describes the first one of H-syndrome rarities in African ethnicity, a 30-year-old Sudanese male misdiagnosed with rheumatoid arthritis. The patient exhibited more than 90% of the clinical characteristics of H syndrome including obesity, short stature, characteristic hyperpigmented, sclerotic cutaneous plaques with induration and hypertrichosis, inflammatory arthropathy, hallux valgus, flexion deformity of toes, exophthalmos, cardiac anomaly, hypogonadism, and splenomegaly and characteristic histologic findings of dermal fibrosis, histiocytosis, lymphoid aggregation, and vascular proliferation. H syndrome is an extremely rare autoinflammatory condition that has a complex constellation of pleiotropic manifestations with multisystemic involvement. And while further identification and better pathophysiological understanding of H syndrome are needed, physicians worldwide should be vigilant about the overlapping features of H syndrome with many other rheumatological, cutaneous, and genetic diseases.
H综合征是一种常染色体隐性多系统疾病，患病率极低，其特征为皮肤硬结性色素沉着、多毛症及各种全身表现。该综合征由位于10q23染色体上的SLC29A3基因突变引起，该基因编码人类平衡型转运体3（hENT3）。到目前为止，文献中仅描述了100 - 120例H综合征患者，以印度、北美和阿拉伯族裔为主。本病例报告描述了首例非洲族裔的H综合征罕见病例，一名30岁的苏丹男性曾被误诊为类风湿性关节炎。该患者表现出超过90%的H综合征临床特征，包括肥胖、身材矮小、特征性色素沉着、硬结性硬化性皮肤斑块及多毛症、炎性关节病、拇外翻、脚趾屈曲畸形、眼球突出、心脏异常、性腺功能减退、脾肿大以及真皮纤维化、组织细胞增多症、淋巴样聚集和血管增生的特征性组织学表现。H综合征是一种极其罕见的自身炎症性疾病，具有多系统受累的复杂多效性表现。虽然需要对H综合征进行进一步识别并更好地理解其病理生理学，但全球的医生都应警惕H综合征与许多其他风湿性、皮肤性和遗传性疾病的重叠特征。
