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、耳聋综合征一例国内首报

目的报告1例先天性鱼鳞病、感音神经性耳聋、血管化角膜炎患者。方法 根据临床及实验室检查结果证实该例患者的诊断。结果患者有典型的面部、耳及鼻部角化性损害，四肢皮肤过度角化，干燥呈皮革样，手足掌过度角化增厚。有典型的睫毛、眉毛脱失，脱发及眼的病变。患者发育正常，智力低下；MRI提示小脑发育不良，第4脑室囊状扩大，显示Dandy Walker征象。结论 口服阿维A3周后头皮损害明显改善，四肢及躯干皮损有改善，阿维A可用于改善患者的过度角化症状。     

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.     

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。     

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.     

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

目的:报告1例角膜炎-鱼鳞病-耳聋综合征并进行基因检测。方法:收集1例角膜炎-鱼鳞病-耳聋综合征患儿的临床资料,提取患儿及其家族成员(父母和舅舅)外周血DNA进行基因突变检测。结果:该患儿皮损组织病理检查示鱼鳞病样改变。基因检测示GJB2基因外显子2中的第148位碱基发生G→T杂合突变(c.148G→T),导致其编码的第50位氨基酸发生错义突变(p.Asp50Tyr)。结论:根据患儿典型的临床表现和基因检测结果诊断为角膜炎-鱼鳞病-耳聋综合征。基因检测有助于明确该病诊断。     

鱼鳞病综合征的遗传学进展

鱼鳞病综合征是一组皮肤症状表现为鱼鳞病样损害的遗传性疾病,大部分由于基因突变引起。近年来国内外研究较多,并取得了不少进展。大部分研究主要集中在发病机制及基因上,如现已对KID综合征、CHILD综合征和NLS等的基因突变点进行了研究,其中大部分由单基因突变所致。     

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。     

表现为红皮病的遗传性皮肤病

红皮病病因复杂,既有先天遗传因素,也有后天继发性因素。成人和儿童发病原因各有其特点。在确立红皮病诊断后,找寻原因及给予及时的治疗是必要的,因此,归类及阐述红皮病发病病因具有重要意义。此文将表现为红皮病的遗传性皮肤病做一综述,为临床提供诊断思路。     

Treatment of keratitis‐ichthyosis‐ deafness (KID) syndrome in children: a case report and review of the literature

Keratitis‐ichthyosis‐deafness (KID) syndrome is a rare hereditary cornification disorder resulting from mutations in connexin 26, a protein important for intercellular communication. In addition to the characteristic clinical triad of congenital bilateral sensorineural hearing loss, keratitis, and erythrokeratoderma, affected individuals also suffer from chronic bacterial and fungal infections and have an increased risk of benign and malignant cutaneous tumors. Treatments with antibiotics, antifungals, and systemic retinoids have been reported with variable response. Ocular and skeletal toxicity from prolonged exposure to systemic retinoids is a major concern especially in children. We report a case of a 7‐year‐old boy with KID syndrome complicated by frequent infections who responded well to acitretin 0.5–1.0 mg/kg/day. The patient had significant improvement of the hyperkeratosis on the scalp, trunk, and extremities within 4 weeks after initiating treatment. The patient has been on treatment for over a year without notable ocular, skeletal, or laboratory side effects. A review of the literature focusing on therapeutic options for KID syndrome and concerns about safety and tolerability is presented.     

A probable case of Muckle-Wells syndrome

Muckle-Wells syndrome is a rare autosomally dominant disorder belonging to the group of periodic fever syndromes. Three main features of the disease are: (i) urticarial eruptions; (ii) progressive perceptive deafness; and (iii) amyloid nephropathy. A 26-year-old Japanese woman had suffered at birth from an urticarial rash and episodic fever. The fever was frequently associated with chills and ill-defined malaise. There was no familial history of urticarial rash or fever. Although she did not recognize hearing loss, audiometry revealed perceptive deafness. She also had hepatosplenomegaly and hyperimmunoglobulinemia, but did not have persistent arthritis, or any neurological or gastrointestinal disorder. No growth retardation was observed. Skin biopsy specimens from her buttock showed a sparse perivascular and interstitial infiltrate of neutrophils in the papillary dermis. Periodic fever syndrome was diagnosed. Muckle-Wells syndrome was most likely, although no amyloid nephropathy was observed and no gene mutations of CIAS1 (T785C, C778T, G907A, G1315A, G1075C) were detected. We treated her with prednisolone, which had a partial effect. Previous treatment with colchicines, antihistamines, dapsone, clarithromycin, minocycline hydrochloride and loxoprofen sodium had been unsuccessful. Muckle-Wells syndrome may go undiagnosed for many years or be misdiagnosed as refractory urticaria. Therefore, we should consider the possibility of periodic fever syndrome when we see patients with refractory urticaria and episodic fever.     

Ichthyosis,cataracts, and motor delay in an infant: A case of Chanarin–Dorfman syndrome

Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessive disorder of impaired triacylglycerol catabolism leading to cytoplasmic deposition of triglycerides in various cell types. We describe the case of an 8-month-old boy with cataracts, strabismus, motor delays, and an ichthyosiform rash since birth. Genetic testing revealed a pathogenic variant of the ABHD5 gene, suggestive of CDS, and further workup demonstrated hepatic steatosis and myopathy. His ichthyosis improved with initiation of a diet low in very long-chain fatty acids and medium-chain fatty acid supplementation.     

KID syndrome: congenital ichthyosiform dermatosis with keratitis and deafness--report of the first case in Japan

A 2-year-old male with KID syndrome was presented. Family history was negative for similar skin disease. The patient showed generalized ichthyosiform erythroderma, vascularizing keratitis, and neurosensory deafness. Additional clinical features included nail dystrophy, hypotrichosis, anhidrosis, and recurrent cutaneous bacterial and fungal infections. Histologic examination disclosed a basket-weave pattern of hyperkeratosis and irregular papillomatous configuration of the epidermis. Electron microscopic examination showed an excessive amount of glycogen in the cytoplasm of erector pili muscle cells. This is the first case reported in Japan.