Progressive palmoplantar keratoderma:a pedigree study

报告1例进行性掌跖角化病及其家系调查结果.先证者男,17岁.掌跖角化性斑块15年.皮肤科检查见双掌、跖部弥漫性角化性斑块,逾越至手背、足背,形成条状角化性斑块,并特征性累及足跟.皮损组织病理检查示表皮棘层及颗粒层肥厚伴显著正角化过度.诊断:进行性掌跖角化病.该家系4代中有4例该病患者(男3例,女1例),属常染色体显性遗传.     

Mibelli型汗孔角化症一家系七例

[摘要] 目的：探讨Mibelli型汗管角化症的病因、临床特征及治疗。方法：一家系Mibelli型汗管角化症患者的临床资料与文献进行分析讨论。结果：一家系三代中共有患者7例,连续数代发病,年龄均在8岁左右,男女均可受累,家系内临床表现基本相同;慢性肾衰竭也可并发汗管角化症。结论：Mibelli型汗管角化症主要是常染色体显性遗传性疾病,但免疫因素也可引起发病。目前尚无有效的治疗方法。     

进行性对称性红斑角皮症1例

报告进行性对称性红斑角皮症1例。患者男,27岁,因四肢末端红斑角化27年。皮损组织病理检查示：表皮角化过度,棘层肥厚,真皮见少许炎症细胞浸润。结合临床表现诊断为进行性对称性红斑角皮症。     

毛囊角化病2例

毛囊角化病为常染色体不规则显性遗传性皮肤病，最近我院诊治毛囊角化病2例，现报道如下。     

泛发性汗孔角化症合并枕部巨大鳞癌一例

患者,女,46岁。全身角化性丘疹30年余,头皮破溃1年余。皮肤科情况：躯干四肢褐色斑块,部分中央萎缩;枕部可见18 cm×9 cm溃疡。枕部皮损组织病理检查示条索状异型肿瘤细胞;免疫组化示鳞癌。上肢皮损组织病理检查：多个角化不全柱。诊断：泛发性汗孔角化症合并枕部巨大鳞癌。给予放疗,效果可。     

持久性豆状角化过度症的临床、病理及免疫组化特征研究

目的：提高对持久性豆状角化过度症的认识，探讨其临床、病理、免疫组化特征及治疗方法。方法：分析1例持久性豆状角化过度症患者的临床、病理、免疫组化特征及治疗方法。结果：本例为19岁的男性患者，因四肢多发性红棕色角化性丘疹8年就诊。皮肤组织病理检查示：表皮显著角化过度，棘层萎缩变薄，真皮乳头层有致密的淋巴细胞带状浸润。免疫组化检查示：真皮浸润的淋巴细胞绝大部分是CD3＋T淋巴细胞，CD4＋T淋巴细胞明显多于CD8＋T淋巴细胞。患者经异维A酸VI服及外用治疗1月后，皮损变平，目前该患者还在随访中。结论：持久性豆状角化过度症是一种临床少见的角化性皮肤病，CD4＋T细胞介导的免疫反应在HLP的发病中可能起着重要的作用，异维A酸口服及外用治疗该病有效。     

先天性角化不良研究进展

先天性角化不良是一种少见的先天遗传性皮肤病，其临床三联征包括：甲板营养不良，口腔或阴道等可出现白斑，皮肤异色症样的色素沉着。先天性角化不良是与编码角化不良蛋白基因、编码端粒酶的RNA组份基因、编码端粒酶的逆转录酶基因突变及其他未确认的致病基因突变引起的基因病，其遗传方式有：X-性联隐性遗传、常染色体显性遗传及常染色体隐性遗传。治疗上还缺乏有效的治疗方法。文中从先天性角化不良的发病机制、突变类型、临床表型以及治疗方面综述先天性角化不良的研究进展。     

线状型与播散性浅表性光线性汗孔角化症并存1例及家系调查

汗孔角化症是一组少见的慢性进行性角化性皮肤病,多呈常染色体显性遗传,组织病理学上以表皮内角化不全柱为特征,现报告1例线状型与播散性浅表性光线性汗孔角化症并存患者及其家系调查。     

儿童甲下外生性骨疣特殊皮肤镜表现1例

患儿男,9岁,6个月前左足无明显诱因突发第3足趾远端疼痛性结节,皮肤镜表现为典型的树枝状血管扩张及角化过度。X线正侧位片示：左足第3足趾远端趾骨骨质增生,可见骨性肿物。皮损组织病理示：表皮可见角化过度,角化不全,真皮见骨小梁形成,散在淋巴细胞、组织细胞浸润。诊断：甲下外生性骨疣。予以手术切除后,趾甲形态正常,无复发及术后并发症。     

颗粒状角化不全

报告2例颗粒状角化不全.患者分别为22岁女性和39岁男性,左腋窝角化性丘疹伴瘙痒10余年和18年.组织病理检查示角质层角化过度及角化不全,伴有明显嗜碱性透明角质颗粒沉积.诊断:颗粒状角化不全.     

Trichophyton tonsurans in a family microepidemic

Trichophyton tonsurans is a highly transmissible anthropophilic dermatophyte fungus, which invades keratinized tissues. This study reports a case of family microepidemic caused by this dermatophyte. Despite their excellent hygiene conditions, it remained active for several years, spreading to all family members. The hypothesis that the fungus was being kept alive in the family home was confirmed after samples collected from it were analyzed. Pure cultures of the fungus were isolated and identified. After diagnosis, the house was disinfected with concomitant oral treatment for all family members.     

色素失禁症1家系NEMO基因新致病突变报道

【摘要】 目的 对1个色素失禁症家系进行基因诊断,以明确致病基因突变位点。方法 收集整理该家系所有患者的临床资料。提取该家系中患者、健康人、100例无关健康对照外周静脉血细胞DNA,针对NEMO基因外显子区及其侧翼序列进行Sanger测序。结果 该家系4代共4例患者,均有典型皮损,其他症状各有差异。基因测序示先证者及其他3例患者均存在NEMO基因8号外显子的杂合无义突变c.1153C>T（p.Gln385X）,编码区第1153位碱基由C突变为T,导致肽链第385位谷氨酰胺密码子（CAG）变成终止密码子（TAG）,14例健康亲属和100例健康对照未发现该突变。该突变与色素失禁症符合共分离,数据库查询显示其为新发无义突变,美国遗传学与基因组学学会指南判定致病证据为极强致病位点。结论 NEMO基因突变c.1153C>T与该家系色素失禁症发病有关。     

青春期后发病的色素异常性皮肤淀粉样变家系相关基因突变研究

目的:青春期后发病的色素异常性皮肤淀粉样变少见,本文报道一家系,并检测该家系中OSMR及IL31RA基因的突变情况。方法:经知情同意后采集该先证者及家系4例患者外周血后用PCR扩增OSMR基因第12～15号外显子和IL31RA基因12号外显子并进行测序。结果:该家系所有成员OSMR基因第12～15号外显子和IL31RA基因第12号外显子均未发现明显突变。结论:该家系未在OSMR基因第12～15号外显子和IL31RA基因第12号外显子发现突变,可能存在其他基因突变位点有关,需要进一步验证。     

弥漫性表皮松解性掌跖角化病两家系突变分析

目的: 检测弥漫性表皮松解性掌跖角化病两家系中KRT9基因的突变情况。方法: 收集各家系患者的临床资料,抽取家系患者、正常人及200名健康志愿者外周血并提取DNA,采用聚合酶链式反应(PCR)扩增KRT9基因全部外显子并进行sanger测序。结果:在两个家系所有患者的KRT9基因1号外显子均检测到c．487C＞T 错义突变(p．163Ｒ＞W),家族未患病成员以及200名正常对照中未发现此突变。家系1中先证者的女儿和祖父除了掌跖角化过度外还出现了先天性指节垫和先天性指曲屈畸形,而家系2中所有患者并未出现该症状。结论: KRT9基因的c．487C＞T 错义突变是导致这两个表皮松解性掌跖角化病家系的遗传学病因,同一突变在不同家系或同一个家系的不同个体之间的临床表型存在差异。     

色素失禁症一家系NEMO基因缺失

目的：检测家族性色素失禁症（incontinentia pigmenti,IP）患者NEMO基因的缺失突变.方法：选取NEMO基因特异引物nemo-Int3S、nemo-Rep3S和nemo-L2Rev,采用多重聚合酶链反应对家系内成员NEMO基因的缺失位点进行检测.结果：IP家系内所检测患者中皆有NEMO基因外显子4～10缺失,家系内正常人未见NEMO基因缺失.结论：该家系患者的基因突变方式为NEMO外显子4～10缺失.     

Multiple self-healing squamous epithelioma of Ferguson-Smith: observations in a Danish family covering four generations

Multiple self-healing squamous epithelioma of Ferguson-Smith (MSSE) is a rare autosomal dominantly inherited disease, almost exclusively reported in patients of Scottish origin, with recurrent, histologically malignant tumours that undergo spontaneous regression. We report clinical observations in a Danish family with 11 affected patients, which appears to be the first Scandinavian family published with the disease. Anamnestic data and data concerning age of onset, localization, number of tumours and treatment modalities were collected from the family and from medical records, and all living patients were examined. Detailed clinical findings in 6 patients are described, together with a summary of clinical data from all 11 affected family members. The mean age of onset in the family was 52.6 years (range 30-81 years). A total of 44 tumours, chiefly located in sun-exposed areas, were recorded and the average number of tumours per patient was 4 (range 1-23). 61.4% of the tumours were excised, 31.8% regressed spontaneously without treatment. MSSE may thus also affect patients of non-Scottish origin. The disease severity can vary greatly among patients and the onset can be at an advanced age. MSSE constitutes an important model for research into tumour biology.     

家族性良性天疱疮一家系报道及其ATP2C1基因筛查

目的 报道一个家族性良性天疱疮家系并对其致病基因ATP2C1进行突变筛查。方法 对先证者及其家族4代成员进行临床调查。采集每一成员静脉血标本,同时采集50例健康人血液标本作为对照。提取外周血基因组DNA,分别对 ATP2C1基因的所有28个外显子及其侧翼内含子序列进行PCR扩增,再对每一扩增产物进行直接测序,最后将测序结果分别与基因库（NM_014382.2和NC_000003.9）的编码序列和基因组序列进行逐一比对分析。结果 调查该家系4代24个成员,共有8例患者。基因筛查显示先证者和该家族其他患者的ATP2C1基因第17号外显子上发生一单核苷酸碱基置换,即c（1696C→T）;同时该家族中第2代、第3代正常成员和50例健康对照均未检测到这一碱基变化。第4代4个成员中,仅有1个成员,即Ⅳ3,亦检测到这一变化。结论 该家系患者ATP2C1基因发生c（1696C→T）无义突变,可能是家族性良性天疱疮的致病突变;Ⅳ3携带该突变,但到目前为止,其未发生家族性良性天疱疮的相关临床症状,有必要对其进行密切随访。     

一个表皮松解性掌跖角化病家系的KRT1基因突变分析

目的 探讨一个中国汉族人表皮松解性掌跖角化病(EPPK)家系的角蛋白基因KRT1、KRT9、KRT10突变情况.方法 收集1个EPPK家系的临床资料,提取外周血DNA,通过PCR扩增角蛋白KRT1、KRT9、KRT10基因编码区的全部外显子及其侧翼序列并测序,以表型正常家系成员及50例健康人为正常对照.结果 发现家系内6例患者均存在KRT1基因错义突变c.1436T>C,导致第479位的异亮氨酸被苏氨酸取代(I479T),在家系中6例正常人及50例对照者未发现上述突变.结论 错义突变KRTI的c.1436T>C可能为导致该家系临床表型的主要原因.本例为国内首次发现的KRT1突变引起的EPPK家系.

Abstract：

Objective To analyze the mutations in keratin 1 (KRT1), KRT9 and KRT10 genes in a Chinese family with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected from a family with EPPK. Genomic DNA was extracted from the peripheral blood of 12 family members, including 6 patients and 6 unaffected members, as well as from 50 unrelated normal human controls. PCR was performed to amplify all the exons and flanking sequences of KRT1, KRT9 and KRT10 genes followed by DNA sequencing.Results A missense mutation C.1436T > C was found in the highly conserved helix termination motif of KRT1 gene of all the patients, resulting in a substitution of isoleucine by threonine at position 479 of the KRT1 protein. No mutation was found in the unaffected members or unrelated controls. Conclusions The missense mutation C.1436T > C in K.RT1 gene is likely to be the main cause of the phenotype of EPPK in this family.This is the first report of a pedigree with KRT1 gene mutation-induced EPPK in China.     

Is the Heredity of Reticulate Acro Pigmentation of Kitamura always Autosomal Dominant?

Reticulate acropigmentation of Kitamura (RAK) in three patients and their families is described. In one family, 2 women and 2 men were affected out of 9 individuals. In the other family, 6 women had lesions of reticulate acropigmentation out of total of 27 over three generations. In the third family, one man was affected. All of the cases had palmar pits; onset of lesions was after puberty in all the cases. The apparently different hereditary patterns in these three families are striking, and autosomal dominant inheritance appears unlikely in every case.     

有汗性外胚层发育不良一家系基因突变

目的 探讨有汗性外胚层发育不良家系的基因突变及突变类型，为建立本病的基因诊断与遗传咨询提供依据。方法 PCR及Sanger测序技术对有汗性外胚层发育不良家系先证者GJB6基因外显子进行突变鉴定，对可疑的变异位点， Sanger测序检测家系其他成员该位点变异情况。结果 基因检测结果表明，家系先症者GJB6基因错义突变c.31G〉A，该突变导致连接蛋白-30（connexin-30, CX-30）第11位氨基酸由甘氨酸变成精氨酸（p.G11R）。家系的患者均携带此变异，而家系表型正常的个体不携带此变异。结论 GJB6基因c.31G〉A（p.G11R）突变是该有汗性外胚层发育不良家系致病基因突变。