Vural Seçil, Ertop Pelin, Durmaz Ceren D, Şanlı Hatice, Okçu Heper Aylin, Kundakçı Nihal, Karabulut Halil G, Ilgın Ruhi Hatice
Department of Dermatology, Faculty of Medicine, Ankara University, Ankara, Turkey.
Cytogenet Genome Res. 2017;151(4):186-190. doi: 10.1159/000475908. Epub 2017 May 30.
H syndrome (OMIM 602782) is a very rare autosomal recessive genodermatosis with multisystem involvement. Hallmarks of this disorder are juvenile onset and progressive, hyperpigmented, hypertrichotic lesions with histiocytic infiltration. Associated systemic manifestations form a long list, and there is high variability between patients. In some patients, dysmorphic and other systemic features may be so subtle that the disorder may readily be mistaken as an acquired skin disease and treated as such. Herein, we report a novel homozygous c.1339G>A (p.Glu447Lys) mutation in the SLC29A3 gene in a patient with skin-dominant presentation of H syndrome. Additionally, due to the present case, double superior vena cava can be added to the list of possible cardiovascular manifestations of H syndrome.
H综合征（OMIM 602782）是一种非常罕见的常染色体隐性遗传性皮肤病，累及多个系统。该疾病的特征为青少年起病，进行性发展，伴有组织细胞浸润的色素沉着过度、多毛性皮损。相关的全身表现众多，患者之间差异很大。在一些患者中，畸形和其他全身特征可能非常细微，以至于该疾病很容易被误诊为后天性皮肤病并按此治疗。在此，我们报告1例以皮肤表现为主的H综合征患者，其SLC29A3基因存在一个新的纯合c.1339G>A（p.Glu447Lys）突变。此外，鉴于本病例，双上腔静脉可被添加到H综合征可能的心血管表现清单中。
