重症板层状鱼鳞病一例

患者,女,41岁。全身黑褐色片状鳞屑40余年,伴瘙痒3天。结合临床及组织病理检查,诊断符合板层状鱼鳞病。口服阿维A、药物封包治疗4周后病情好转。     

板层状鱼鳞病1例

板层状鱼鳞病（lamellar iehthyosis）是一咱常染色体隐性遗传性皮肤病，临床表现为全身大片状鳞屑，同时伴有掌跖角化过度、出汗不良和眼睑外翻等特征。我科收治1例，现报告如下。     

板层状鱼鳞病1例

1　临床资料　患儿男 ,3岁。因全身皮肤反复红斑、脱屑 2年就诊。其母诉患儿出生后 ,全身皮肤干燥 ,但无红斑鳞屑。半岁时全身皮肤出现红斑 ,有少量细薄干燥鳞屑 ,无丘疹水疱 ,无糜烂渗液 ,继而红斑逐渐融合成片 ,鳞屑变大呈多角形或四方形 ,反复发作至今。 1岁半时 ,患儿出现双下眼睑外翻 ,十指指甲增厚。患儿系足月顺产 ,母孕期无上感及特殊用药史。父母非近亲婚配 ,家族中无类似皮肤病史。体检 :发育较差 ,体重 12kg。皮肤科情况 :头发较黄 ,头皮上覆细薄干燥鳞屑 ,全身皮肤除生殖器外弥漫性潮红、干燥 ,上覆大片多角形或方形淡黄色疏松…     

板层状鱼鳞病致病基因的研究进展

板层状鱼鳞病(lamellar ichthyosis,LI)是一组以皮肤干燥、鱼鳞状鳞屑为特征的角化异常性皮肤病。随着分子生物学的发展,对LI致病基因的研究不断深入,现已明确致病基因TGM1、AB￣CA12、CYP450、ALOXE3和ALOXl2B,他们分别通过不同的途径如影响角质形成细胞包膜的形成、脂质转运体、脂质代谢等来改变皮肤的屏障功能导致LI的发生。此外,一些报道其他基因(NIPAL4基因)也可导致LI的发生,但具体机制不详。本文主要对5个明确致病基因进行综述,更好地了解致病基因功能及导致LI发生的具体机制,为寻找新的药物治疗靶点提供必要的依据。     

阿维A治疗重症板层状鱼鳞病2例

目的:观察阿维A治疗2例重症板层状鱼鳞病的疗效和安全性.方法:通过对比服药前后皮损情况分析阿维A治疗重症板层状鱼鳞病的疗效、剂量及其副作用.结果:2例重症板层状鱼鳞病患者,服用阿维A 2周后鳞屑大块脱落;4周后睑外翻的症状改善.初始剂量分别为1.2 mg/(kg·d)和1.11 mg/(kg·d),维持剂量分别为1 mg/(kg·d)和0.56 mg/(kg·d).定期检测血常规、肝肾功能和血脂,未发现异常.服药期间1例患者出现骨痛.结论:阿维A治疗重症板层状鱼鳞病疗效佳,应注意服药期间定期检测血液和骨骼相关指标.     

板层状鱼鳞病一家系2例

1 临床资料例1男,3 岁.全身黑褐色鳞屑3年.其父诉患儿出生时全身即覆一层纸样透明薄膜,后渐脱落,但又出现新的膜状物,如此间隔,月余更替一次,膜的颜色由透明逐渐加深成为黑褐色,并增厚似铠甲,从1岁起,双下眼睑渐外翻,现双眼已不能完全闭合.1月前皮肤多处发生皲裂(无明显原因)、渗血,难以愈合.     

板层状鱼鳞病患者感染水痘1例

患者,男,27岁。因发热3天,全身水疱2天入院。2周前在我院因板层状鱼鳞病给予凡士林封包及口服阿维A后明显好转出院。本次入院查体:T 38.6℃,全身以头面、躯干和四肢近端为主的密集分布绿豆大小脓疱,少量水疱、斑丘疹,部分结痂,口腔内数个散在分布的粟粒样大小水疱。皮损组织病理示表皮内水疱,疱内可见多核上皮细胞,多量中性粒细胞。单纯疱疹病毒(HSV)病毒培养和DNA检测阴性。诊断:板层状鱼鳞病感染水痘。给予阿昔洛韦500 mg每8 h 1次,联合静脉用人丙种球蛋白10 g每日1次,连续3天,3天后体温降至正常,部分皮损干涸结痂,1周后患者痊愈出院。     

板层状鱼鳞病一家系TGM1突变基因检测

目的 报道1例有近亲背景的板层状鱼鳞病患者及其家系,并检测其转谷氨酰胺酶Ⅰ编码基因TGM1的突变。 方法 提取板层状鱼鳞病患者及家族成员的基因组DNA,采用PCR 扩增TGM1 基因所有的15个外显子及其邻近的侧翼序列并进行双向直接测序。结果 该板层状鱼鳞病患者TGM1基因第11个外显子的1666位的碱基存在胞嘧啶（C）→胸腺嘧啶（T）突变,使得529位密码子由ACA→ATA,相应氨基酸由苏氨酸（Thr）变为异亮氨酸（Ile）。结论 患者转谷氨酰胺酶Ⅰ Thr529Ile基因突变可能导致其发病。其父母基因型均为该突变的杂合子,近亲婚配促进基因的纯合,增加后代患病概率。     

阿维A长期治疗儿童板层状鱼鳞病1例

回顾性分析1例板层状鱼鳞病儿童服用阿维A后皮损改善情况。患者初始口服阿维A 5mg/d治疗半年效果不明显,后加量至10mg/d,2周后疗效明显,黏着性鳞屑基本脱落。患儿口服阿维A已超过7年,暂未见明显生长发育迟缓。     

板层状鱼鳞病与谷氨酰胺转移酶

板层状鱼鳞病(Lamellar ichthyosis，LI)是一种常染色体隐性遗传性皮肤病，临床上以广泛的鳞屑和角化过度为其特征性表现。近来研究表明，部分LI患者的谷氨酰胺转移酶1(transglutaminase 1，TGasel)的编码基因—TGM1突变是其发病原因。     

板层状鱼鳞病TGM1基因突变研究

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.方法 提取板层状鱼鳞病患者及家族成员的基因组DNA,采用PCR扩增TGM1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,并对TGM1基因的同源性进行分析.结果 板层状鱼鳞病患者TGM1基因存在异常:外显子3的第504位碱基由胞嘧啶突变为胸腺嘧啶,使第142位氨基酸由精氨酸(R)转变为半胱氨酸(C),即R142C错义突变;外显子7的第1122位碱基由胞嘧啶突变为胸腺嘧啶,使348位氨基酸由精氨酸(R)突变为终止密码(R348X),导致其编码的蛋白缺失了C端的470个氨基酸.其父亲为R142C杂合子,母亲为R348X突变杂合子;R142C错义突变位于TGM1基因保守区域.结论 该板层状鱼鳞病患者存在转谷氨酰胺酶1基因的R142C错义突变和R348X无义突变.     

CYP4F22基因突变致板层状鱼鳞病一例

【摘要】 患儿男,1月龄,出生时全身皮肤潮红,表面覆火棉胶样膜,之后全身逐渐脱屑,2个月时火棉胶样膜完全脱落,鳞屑明显,皮肤干燥。皮肤科检查：全身皮肤干燥,前胸残留紧张、有光泽且透明的塑料封皮样膜,躯干、头皮可见大片状、白色的盘状鳞屑,呈镶嵌状,鳞屑中央黏着,边缘游离。测序结果显示,患儿存在CYP4F22基因复合杂合突变,即父源突变c.1137 G>A（p.W379X）和母源突变c.467 G>A（p.R156H）。诊断：板层状鱼鳞病。     

香菇皮炎二例

【摘要】 报道2例进食香菇24 h后出现典型皮损的病例并总结其特点。例1女,56岁,因突起广泛性皮疹,稍痒就诊。体检：颈部、躯干、肢体见鞭打样条状鲜红色水肿性红斑块,起病前1 d吃过香菇,诊断：香菇皮炎。例2男,60岁,躯干、四肢水肿性鞭打样红斑块、丘疹4 d。起病2 ~ 3 d前有食香菇史。取皮损组织病理检查：灶性角化不全,棘细胞内外水肿,真皮乳头高度水肿,纤维间隙明显增宽;真皮浅层毛细血管扩张充血,管周致密的淋巴细胞和少数中性粒细胞浸润。诊断：香菇皮炎。两例均给予泼尼松及抗组胺药物治疗3 d和4 d,皮疹消退。     

Two cases of lamellar ichthyosis with unusual hair shaft abnormalities

The authors describe two brothers presenting the clinical picture of lamellar ichthyosis. The scanning electron microscopy and transmission electron microscopy study of their hair demonstrated important recurrent anomalies of the hair shaft.     

Severe ectropion in lamellar ichthyosis managed medically with oral acitretin

Congenital ectropion is commonly associated with lamellar ichthyosis. Severe eyelid ectropion may cause corneal exposure, keratopathy, and permanent corneal scarring. We report a neonate with severe, bilateral, congenital ectropion and eclabium managed using oral retinoids. Both corneas were protected with topical antibiotics and lubricating eyedrops and eye ointments. At 12‐month follow‐up, the child was doing well, with no ectropion or corneal opacity.     

表皮松解性角化过度鱼鳞病一例

5岁女性患儿,全身皮肤潮红5年,出现干燥及角化增厚4年。皮损组织病理示:表皮显著角化过度,颗粒层细胞内见不规则的透明角质颗粒呈空泡样变性改变,棘层不规则增厚,真皮浅层血管周围少量炎性细胞浸润。基因突变检测示KRT10位点突变,基因编码区478号碱基由T变为A。诊断:表皮松解性角化过度鱼鳞病。给予局部外用0.1%维A酸乳膏每日2次及皮肤保湿剂治疗,40 d复诊时皮损明显好转,全身皮肤基本正常。     

Basis for the permeability barrier abnormality in lamellar ichthyosis

The basis for the permeability barrier abnormality in lamellar ichthyosis (LI) is not known. LI is caused by mutations in the gene that encodes the enzyme, transglutaminase 1 (TGI), which is responsible for assembly of the cornified envelope (CE). TG1 also has been suggested recently to catalyze the covalent attachment of omega-hydroxyceramides (omega-OHCer) to the CE, forming the corneocyte-lipid envelope (CLE). We first assessed the barrier function and the permeability pathway of the water-soluble tracer, colloidal lanthanum, across the stratum corneum (SC) in patients with LI with absent (n = 4) or low (n = 2) TG1 activity/protein. Increased movement of tracer through the SC correlated with increased transcutaneous water loss, and tracer remained restricted to the SC interstices. Enhanced extracellular permeability, in turn, was explicable by truncation and fragmentation of extracellular lamellar membrane arrays. The resultant clefts in the SC interstices represent the likely pathway for increased water permeability. Moreover, tracer movement remained restricted to the interstices, despite the demonstration of increased corneocyte fragility associated with widespread variations in CE structure. Regardless of variability in CE structure, however, CLE structure and bound omega-OHCer content were normal. The normal CLE in LI may explain both the restriction of tracer to the SC interstices, as well as the presence of foreshortened membrane arrays with near-normal interlamellar dimensions. Finally, the demonstration of a normal CLE in LI also raises questions about the putative role of TG1 in forming the CLE. These results demonstrate: (1) the extracellular nature of increased permeability in LI; (2) discontinuities in extracellular membrane structures that account for the enhanced permeability in LI; (3) that these membrane abnormalities are both associated with and explained by abnormalities in the subjacent CE scaffold; and (4) an intact CLE is present in LI, despite abnormalities in the CE, which may restrict water movement to the SC interstices in LI.