口服阿维A治疗角膜炎-鱼鳞病-耳聋（KID）综合征实现视力障碍逆转 - Suppr

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超能文献

Visual impairment reversal with oral acitretin therapy in keratitis-ichthyosis-deafness (KID) syndrome.

作者信息

Wolfe Christopher M, Davis Alexander, Shaath Tarek S, Cohen George F

机构信息

Division of Dermatology, Florida State University College of Medicine, Tallahassee, Florida.

出版信息

JAAD Case Rep. 2017 Nov 8;3(6):556-558. doi: 10.1016/j.jdcr.2017.07.021. eCollection 2017 Nov.

DOI:10.1016/j.jdcr.2017.07.021

PMID:29159249

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5683742/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e15c/5683742/d4ed8a7a6f4a/gr1.jpg

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Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.角膜炎-鱼鳞病-耳聋综合征：携带p.Asp50Asn GJB2突变患者的表型异质性及治疗前景

Dermatol Ther. 2020 Nov;33(6):e14493. doi: 10.1111/dth.14493. Epub 2020 Nov 23.

Treatment of keratitis-ichthyosis- deafness (KID) syndrome in children: a case report and review of the literature.儿童角膜炎-鱼鳞病-耳聋（KID）综合征的治疗：一例病例报告及文献综述

Dermatol Ther. 2015 Mar-Apr;28(2):89-93. doi: 10.1111/dth.12192. Epub 2014 Dec 29.

KID syndrome: response to acitretin.

J Dermatol. 2002 Aug;29(8):499-502. doi: 10.1111/j.1346-8138.2002.tb00315.x.

Oral squamous cell carcinoma in a patient with keratitis-ichthyosis-deafness syndrome: a rare case.角膜炎-鱼鳞病-耳聋综合征患者的口腔鳞状细胞癌：1例罕见病例

Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Apr;119(4):e226-32. doi: 10.1016/j.oooo.2015.01.005. Epub 2015 Feb 3.

[Successful topical cyclosporin A in the therapy of progressive vascularising keratitis in keratitis-ichthyosis-deafness (KID) syndrome (Senter syndrome)].[局部应用环孢素A成功治疗角膜炎-鱼鳞病-耳聋（KID）综合征（森特综合征）中的进行性血管化角膜炎]

Klin Monbl Augenheilkd. 2002 May;219(5):383-6. doi: 10.1055/s-2002-32629.

The keratitis, ichthyosis, and deafness (KID) syndrome.角膜炎、鱼鳞病和耳聋（KID）综合征

Arch Dermatol. 1981 May;117(5):285-9.

[KID syndrome (keratitis-ichthyosis-deafness)].[儿童鱼鳞病-角膜炎-耳聋综合征（KID综合征）]

Med Cutan Ibero Lat Am. 1987;15(3):223-8.

Mulitmodal Corneal Imaging of Genetically Confirmed Keratitis-Ichthyosis-Deafness Syndrome.基因确诊的角膜炎-鱼鳞病-耳聋综合征的多模态角膜成像

Cornea. 2020 Nov;39(11):1446-1449. doi: 10.1097/ICO.0000000000002415.

Keratitis, ichthyosis, and deafness (KID) syndrome.角膜炎、鱼鳞病和耳聋（KID）综合征。

Pediatr Dermatol. 2002 Nov-Dec;19(6):513-6. doi: 10.1046/j.1525-1470.2002.00222.x.

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The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome.一个家族中3名成员基因p.Asp50Asn杂合突变的临床表现与克罗斯顿综合征相似。

Ann Dermatol. 2022 Oct;34(5):382-386. doi: 10.5021/ad.20.278.

KID Syndrome: A Rare Genodermatosis.儿童鱼鳞病样红皮病综合征：一种罕见的遗传性皮肤病。

Indian Dermatol Online J. 2020 Jan 13;11(1):116-118. doi: 10.4103/idoj.IDOJ_87_19. eCollection 2020 Jan-Feb.

本文引用的文献

From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome.从活跃的连接蛋白26半通道到角膜炎-鱼鳞病-耳聋综合征中表皮钙梯度和渗透屏障的损伤。

J Invest Dermatol. 2016 Mar;136(3):574-583. doi: 10.1016/j.jid.2015.11.017. Epub 2016 Jan 8.

Dermatol Ther. 2015 Mar-Apr;28(2):89-93. doi: 10.1111/dth.12192. Epub 2014 Dec 29.

Keratitis, ichthyosis, and deafness syndrome: a review of infectious and neoplastic complications.角化不良、鱼鳞病和耳聋综合征：感染和肿瘤并发症的综述。

J Am Acad Dermatol. 2013 Jul;69(1):127-34. doi: 10.1016/j.jaad.2012.12.965. Epub 2013 Feb 4.

Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin.两名患有非典型Vohwinkel（致残性角皮病加耳聋）和KID综合征的瑞典患者均存在连接蛋白26（GJB2）突变，二者均接受了阿维A的广泛治疗。

Acta Derm Venereol. 2006;86(6):503-8. doi: 10.2340/00015555-0164.

Transcriptional regulation of connexin 43 expression by retinoids and carotenoids: similarities and differences.类视黄醇和类胡萝卜素对连接蛋白43表达的转录调控：异同点

Mol Carcinog. 2005 Jun;43(2):75-85. doi: 10.1002/mc.20080.

Two patients with severe corneal disease in KID syndrome.两名患有儿童鱼鳞病综合征严重角膜疾病的患者。

Am J Ophthalmol. 2004 Jan;137(1):181-3. doi: 10.1016/s0002-9394(03)00739-6.

Retinoic acid modulates gap junctional intercellular communication in hepatocytes and hepatoma cells.视黄酸调节肝细胞和肝癌细胞中的间隙连接细胞间通讯。

Cell Mol Life Sci. 2002 Oct;59(10):1758-65. doi: 10.1007/pl00012503.

KID syndrome: response to acitretin.

J Dermatol. 2002 Aug;29(8):499-502. doi: 10.1111/j.1346-8138.2002.tb00315.x.

Retinoid-enhanced gap junctional communication is achieved by increased levels of connexin 43 mRNA and protein.维甲酸增强的间隙连接通讯是通过增加连接蛋白43 mRNA和蛋白质的水平来实现的。

Mol Carcinog. 1990;3(6):335-43. doi: 10.1002/mc.2940030605.

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