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 mutations of transglutaminase 1 ( TGM1) gene in a family with lamellar ichthyosis.

目的探讨一个板层状鱼鳞病家系转谷氨酰胺酶1基因（TGM1）的突变。

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Results: 97 cases were randomly divided into three groups. After 28 days treatment, respectively the efficacy rates were 100%, 100% for ichthyosis vulgaris and rhagadia manus and pedalis in test group, vs.

结果：97例患者随机分为试验组、对照组和开放组，28d治疗后，试验组鱼鳞病和手足皲裂的有效率均为100%、对照组则分别为91.7%和27.3%。

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The diagnosis was ichthyosis in histopathological examination, congenital nerve deaf-mutism in otolaryngology and corneal pannus in ophthalmology.

躯干部皮肤明显干燥，皮肤角化过度，呈皮革样变化。病理活检为鱼鳞病，耳科检查为先天感音神经性耳聋，眼科检查为角膜血管翳。

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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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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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Double blind randomized controlled clinical trial of lactic acid compound ointment in the treatment of ichthyosis vulgaris

复方乳酸软膏治疗寻常型鱼鳞病随机双盲基质对照多中心临床研究

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Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis ( Chanarin-Dorfman syndrome)

伴鱼鳞病的中性脂质贮存异常的发病机制和屏障功能障碍（Chanarin-Dorfman综合征）

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Pathological observation of ichthyosis hystrix Lambert type with light and electron microscopes

Lambert型豪猪状鱼鳞病的光镜及电镜分析

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Fishskin disease Expressions of genes associated with growth and differentiation in peripheral blood leukocytes of lamellar ichthyosis patients

板层状鱼鳞病患者外周血白细胞生长、分化相关基因的表达

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Objective To study the nursing experience of children with severe ichthyosis.

目的探讨重症鱼鳞病患儿的临床护理经验。

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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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First report of gene mutation in a Chinese patient with ichthyosis bullosa of Siemens

Siemens大疱性鱼鳞病基因突变国内首次报道

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Prenatal exclusion of harlequin ichthyosis; potential pitfalls in the timing of the fetal skin biopsy

产前排除丑角样鱼鳞病：择时胎儿皮肤活检的潜在缺陷

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Objective To detect the mutations of GJB2 and GJB6 genes in the first Chinese case of keratitis, ichthyosis and deafness ( KID) syndrome.

目的检测国内首例先天性角膜炎、鱼鳞病、耳聋综合征（KID）患者的GJB2基因和GJB6基因突变。

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Serum essential fatty acid analyses in patients with psoriasis and ichthyosis

银屑病和鱼鳞病患者血清必需脂肪酸分析

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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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OBJECTIVE: To study retrospectively the effect and ADRs of etretinate in 49 patients of keratinization, including psoriasis 33 cases, pityriasis rubra pilaris 6 cases, ichthyosis 3 cases and lichen planus 7 cases.

目的：回顾性研究了依曲替酯治疗49例角化性疾病（银屑病33例，毛发红糠疹6例，鱼鳞病3例和扁平苔藓7例）的疗效及不良反应等。

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Nursing for 23 children with severe ichthyosis

重症鱼鳞病患儿的护理23例

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Gene Mutations in Two Sporadic Cases of Epidermolytic Hyperkeratosis Ichthyosis

表皮松解性角化过度型鱼鳞病二例及其基因突变的研究

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Transglutaminase 1 gene mutations in a family with lamellar ichthyosis

板层状鱼鳞病TGM1基因突变研究

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A case of X-linked ichthyosis with interatrial septal defect

伴房间隔缺损的X-连锁鱼鳞病1例

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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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Analysis on the Genotype and Clinical Phenotype Correlations of Four Style Heritage Ichthyosis

四种遗传性鱼鳞病基因型与临床表型的相关性分析

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We studied disseminated superficial actinic porokeratosis ( DSAP) and ichthyosis vulgaris ( IV).

我们研究了播散性浅表光化性汗孔角化症（DSAP）和寻常型鱼鳞病（IV）。

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Ichthyosis bullosa of Siemens: Its correct diagnosis facilitated by molecular genetic testing

分子遗传学检测使Siemens大疱性鱼鳞病易于正确诊断

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Keratitis ichthyosis and deafness syndrome: first report in China

角膜炎·鱼鳞病·耳聋综合征&国内首例报告

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Objective To identify gene mutations of two cases of epidermolytic hyperkeratosis ichthyosis.

目的研究二例表皮松解性角化过度型鱼鳞病患者基因突变情况。

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Q& A on Sex Epidermolytic hyperkeratosis ichthyosis complicated by dwarf: a case report

表皮松解性角化过度鱼鳞病伴侏儒1例

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