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Autumn 2019, Vol. 27 No. 3

Hong Kong J. Dermatol. Venereol. (2019) 27, 137-140


Case Report

H syndrome: a genodermatosis characterised by hyperpigmented, and hypertrichotic skin

H綜合徵:一種以皮膚色素沉著和多毛為特徵的遺傳性皮膚病

I An, CD Durmaz, HI Ruhi, P Ertop, M Ozturk, B Sula, N Ecer

Abstract

H syndrome is an autosomal recessive genodermatosis caused by SLC29A3 gene mutation. An important feature of the H syndrome is the hyperpigmented patchs and plaques, usually accompanied by hypertrichosis, seen in the inner thigh. Cardiac anomalies, hepatosplenomegaly, sensorineural hearing loss, short stature, hallux valgus and hypergonadotropic hypogonadism are other common findings of the syndrome. Herein, we report a case of H syndrome with hyperpigmented patches and plaques accompanied by hypertrichosis in inner thighs and had homozygous c.1339G> A (p.Glu447Lys) mutation in exon 6 of the SLC29A3 gene.

H綜合徵是由SLC29A3基因突變引起的常染色體隱性遺傳性皮膚病。H綜合徵的一個重要特徵是在大腿內側有著色素沉著的斑和斑塊,並常伴有多毛症。心臟結構異常、肝脾腫大、感音神經性聽力損失、身材矮小,拇趾外翻和高促性腺激素性性腺功能減退症是該綜合徵的其他常見表現。在本文中,我們報導了一例H綜合徵伴有色素沉著的斑和斑塊,伴有大腿內側多毛症,並且在SLC29A3基因的外顯子6中具有純合的c.1339G> A(p.Glu447Lys)突變。

Keywords: H syndrome, Homozygous mutation, SLC29A3

關鍵詞: H綜合徵、純合突變、SLC29A3