ichthyosis

Harlequin ichthyosis ( HI ) is a severe subtype of autosomal recessive congenital ichthyoses ( ARCI ) .

丑角样鱼鳞病是常染色体隐性遗传性鱼鳞病的一种严重 亚型.

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Keratitis, ichthyosis , and deafness syndrome ( KID syndrome ) is a rare congenital disorder disease.

目的观察角膜炎 、 鱼鳞病、耳聋 综合征 的临床表现.

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Objective To detect the activity of transglutaminase 1 ( TGM 1 ) and gene mutation in a family with lamellar ichthyosis.

目的检测一板层状鱼鳞病家系中患者转谷氨酰胺酶1的活性及其编码基因的突变.

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Objective To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris ( IV ) .

目的研究一常染色体显性遗传寻常型鱼鳞 病家 系的致病基因.

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On admission he was found to have widespread congenital ichthyosis.

入院时发现,其身体多处患有先天性鳞癣,热度已消,但颈部、下和腹股沟淋巴腺仍肿大,脾缘可触及.

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Excessive or abnormal dryness of the skin, as in ichthyosis.

干皮''.'病'.''皮肤异常或不正常的''.'干燥'. '', 如鱼鳞癣.

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