角膜炎、鱼鳞病、耳聋综合征1例

患者女,16岁。因全身皮肤经斑伴鱼鳞样结痂16年,于2003年3月来本院就诊。患者自出生后即有全身皮肤红斑,并出现鱼鳞样鳞屑,至1月龄时开始出现皮肤过度角化,2月龄时在某医院诊治,经组织病理检查证实为鱼鳞病。近年来右足底症状明显加重,病情不能控制,皮肤过度角化明显。家族成员中无类似病史。过去16年中不断使用中西药治疗,未见明显改善。     

角膜炎-鱼鳞病-耳聋综合征

报告1例角膜炎-鱼鳞病-耳聋综合征.患者女,21岁,全身皮肤干燥、红斑、脱屑、折皱部位皮肤增厚21年,角膜病变18年,听力下降15年.体格检查:皮肤干燥,脱屑,毛发脱落,无汗,皮肤高度角化.角膜萎缩伴有新生血管,双耳高度感音性耳聋,听力下降,皮损组织病理检查示鱼鳞病样改变.根据典型的临床表现和组织病理改变诊断为角膜炎-鱼鳞病-耳聋综合征.治疗采用阿维A 30mg/d口服.     

角膜炎、鱼鳞病、耳聋综合征一例

患儿女,10岁.出生后1个月头皮、口周、颈部、躯干、臀部及掌跖出现红斑,皮肤干燥粗糙,头发细软、稀疏,易折断.随着年龄增长,红斑基础上出现明显的角化过度和增厚.5岁时出现畏光、视力下降;8岁开始听力逐渐下降.体检:身高109 cm,体重19 kg.皮肤科检查:头发稀少细软,易断;头皮、口周、颈部、躯干、臀部大片棕褐色斑块、结痂;其上可见疣状增生,伴有皲裂、溢脓,有恶臭.四肢皮肤散在黑褐色角化性斑块.掌跖弥漫性角化过度.指(趾)甲增厚,浑浊变白,远端分离、变形.眼科检查:畏光,视力左眼0.5,右眼0.2;双侧球结膜充血,角膜浑浊、角膜血管增生.耳鼻喉科检查:双耳中度感音性耳聋.口腔科检查:牙釉质发育不全,牙间隙明显增宽.GJB2基因检测发现,患儿GJB2基因2号外显子c.C50T杂合突变.诊断:角膜炎、鱼鳞病、耳聋综合征.经口服阿维A治疗,症状明显缓解.     

角膜炎、鱼鳞病、耳聋综合征临床及机制的研究进展

角膜炎、鱼鳞病、耳聋综合征是一种罕见的遗传病,主要表现为血管性的角膜炎、鱼鳞病以及先天性感音神经性耳聋.该病具有对真菌及细菌的天然易感性,严重者可出现混合感染,并常伴发肿瘤.研究表明,其发病及并发肿瘤主要与连接蛋白26的基因突变相关,且不同位点的突变存在不同的临床表现.近年来角膜移植术、耳蜗植入术、维A酸类药物以及贝伐单抗治疗对某些患者有一定的疗效,但完整的抗感染及恶性肿瘤的治疗体系必不可少.     

角膜炎、鱼鳞病、耳聋综合征的GJB2基因突变研究

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.方法 提取KID综合征患者及家族成员的基因组DNA,采用聚合酶链反应扩增GJB2基因和GJB6基因所有的外显子及其邻近的剪切点,并进行双向直接测序.结果 KID综合征患者的GJB6基因未见变化,GJB2基因核苷酸序列exon2第148位碱基由G突变成A,导致蛋白第50位的天冬氨酸转换成天冬酰胺(D50N).结论 GJB2基因突变可能是本例角膜炎、鱼鳞病、耳聋综合征的致病基因.     

国内首报毛囊鱼鳞病、秃发、畏光综合征一例

患儿男，11岁。出生时发现全身无毛发，皮肤干燥、粗糙。出生后3个月出现畏光，反复发生上呼吸道感染，每月约2次，且经常腹泻。患儿身材矮小，视力差，眼结膜稍充血；角膜新生血管多、混浊，表面毛糙。听力无异常。牙齿形态无明显异常。全身毛发缺如，出汗正常，皮肤干燥，弥漫性菱形或多角形鳞屑斑，上肢鳞屑较厚，呈深褐色。腹部、腋部泛发钉突状毛囊突起。掌跖斑块状角化过度。指、趾甲均增厚，凹凸不平。双手展开时第3、4、5手指近端指间关节过伸。心、肺、肝、脾无异常。智力低下（语言智商52，操作智商 ＜ 40，总智商 ＜ 40）。腹部皮肤组织病理学检查提示鱼鳞病改变。染色体核型分析：46，XY。诊断：毛囊鱼鳞病、秃发、畏光综合征。     

GJB2基因p.S17F变异引起Olmsted综合征样表现的角膜炎-鱼鳞病-耳聋综合征1例

患儿女,1岁5月龄,肢端及腔口周围角化斑块1年余。皮肤科情况：口周、肛周红色角化斑块、表面有放射状裂隙,掌跖皮肤颗粒状角化,伴趾端残毁。出生后听力检查提示先天性感音神经性耳聋,2岁5月龄时发现角膜穿孔。基因检测：GJB2基因c.50C>T(p.S17F)杂合错义突变。诊断：角膜炎-鱼鳞病-耳聋综合征。p.S17F基因突变可能与Olmsted综合征样特征密切相关,在往后诊断中应注意鉴别。     

伴神经性耳聋的Werner综合征1例国内首报

目的探讨Werner综合征的临床表现及诊断,提高对Werner综合征的认识。方法报告1例伴神经性耳聋的Werner综合征,并进行相关的文献复习,详细分析该病的组织起源、临床表现、鉴别诊断、治疗及预后等,完善患者各系统筛查和实验室检查。结果各系统筛查结果提示患者多组织发育不良或加速退行性变。其临床表现复杂,伴有神经性耳聋等,但无糖尿病及白内障,临床诊断为伴神经性耳聋Werner综合征。结论伴神经性耳聋的Werner综合征较为罕见,目前国内未见报道,该病极易误诊,应对Werner综合征相关基因进一步筛查研究。     

以鱼鳞病样皮损为线索的鱼鳞病相关综合征

对皮肤科医师来说,皮肤病相关综合征是一类难以想到及作出诊断的疾病。以皮肤病或皮疹为线索对皮肤病相关的综合征进行分类和总结有助于简便、快捷地诊断此类疾病。本文以鱼鳞病为线索对其相关综合征进行了归纳,试图探讨一种新认识、理解与把握皮肤病相关综合征的思路和方法。     

角膜炎、鱼鳞病、耳聋综合征

报告1例并发头皮严重感染的散发性典型角膜炎、鱼鳞病、耳聋综合征。患儿男,4岁。出生时呈火棉胶样婴儿,随年龄增长皮肤角化过度加重,并发严重的头皮感染,并具有典型的角膜炎、鱼鳞病及耳聋症状。皮损组织病理检查示严重的角化过度,眼科检查表现为血管性角膜炎,听力检查表现为感音神经性耳聋。诊断为KID综合征。该例患儿经口服阿维A,外用维生素E、尿囊素等润肤,口服抗生素、外用莫匹罗星软膏抗感染及外用环孢素眼药水和人工泪液等治疗后,症状明显缓解。     

KID Syndrome (Keratitis, Ichthyosis, and Deafness) and Chronic Mucocutaneous Candidiasis: Case Report and Review of the Literature

In 1981 Skinner et al (1) proposed the term KID syndrome for a previously disparate group of congenital disorders principally made up of keratitis (K), ichthyosis (I), and deafness (D). The coexistence of congenital deafness associated with ichthyosis had been previously recognized (2,3), yet similarities among affected patients were overlooked because of both the paucity of cases and their seeming diversity. The patient reported by Skinner is similar to one whom we have been following at the Clinique Universitaire de Dermatologie in Geneva since 1978. After having reviewed the literature, we believe that KID syndrome is a useful, unifying clinical term.     

Keratitis,Ichthyosis, and Deafness (KID) Syndrome in Half Sibs

Abstract: The keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of the ectoderm characterized by diffuse hyperkeratotic erythroderma, keratitis with neovascularization of the cornea, and severe neurosensory hearing loss. A familial occurrence of this syndrome has been mentioned in four reports including three of vertical transmission and one of two affected sisters born from consanguineous, unaffected parents. We report for the first time a familial case of KID syndrome in two half siblings born to the same unaffected mother. This new observation allows us to propose various hypotheses about its mode of inheritance.     

Keratitis, Ichthyosis, and Deafness (KID) Syndrome With Cerebellar Hypoplasia

A 6-year-old boy with features of the keratitis-ichthyosis-deafness (KID) syndrome and cerebellar hypoplasia is the second case in which abnormality of cerebellum was detected by computed tomography, but is the first report of KID syndrome with cerebellar hypoplasia. This finding, together with neurosensory deafness and other neuromuscular defects, may suggest that there is an underlying inborn error of nervous system in the KID syndrome. In vitro immunologic studies in this patient also showed a possible deficit in cellular immunity.     

Ichthyosis Bullosa of Siemens: Report of a Sporadic Case

We report a sporadic case of ichthyosis bullosa of Siemens occurring in a Korean boy. In this report, the varied findings of the clinical features in one subject over five years are presented along with an investigation of the ultrastructural alteration. The patient had suffered from blistering, superficial peeling, and dark-grey colored lichenified patches on the extremities since infancy. As he grew older, the lesions were more localized to the elbows, knees, buttock and the dorsal aspects of the hands and feet, and were replaced by yellowish, lichenified plaques. Since the original report of Siemens in 1937, nine families including one sporadic case have been reported in the literature. To our knowledge, this is the second report of sporadic case of IBS.     

Vegetating Candidiasis: A Mimicker of Squamous Cell Carcinoma in Keratitis Ichthyosis Deafness Syndrome

Keratitis ichthyosis deafness (KID) syndrome is a rare genodermatosis with a high risk of cutaneous malignancy and infections. Infections can induce pseudocarcinomatous epidermal hyperplasia, leading to erroneous diagnosis of squamous cell carcinoma. We present a pediatric case of KID syndrome with vegetating plantar and acral candidiasis and highlight the importance of correct biopsy technique and clinicopathologic correlation in appropriate management.