有汗性外胚层发育不良一例

患儿男,8岁,因双拇趾甲异常8年就诊.患儿出生后不久双拇趾甲颜色即呈浅蓝褐色,后趾甲颜色逐渐变深并增厚,无自觉症状.其父母为非近亲婚配,母孕期体健,患儿有一兄,11岁,体健,否认家族遗传病史.体检:身高1.10 m,体质量21.5 kg,较同龄人矮小,消瘦.眼距较宽,鼻梁略宽稍凹,下颌短小,下唇稍厚,呈特殊面容,上下牙槽中切牙、侧切牙均缺如,心、肺、腹无异常,皮肤痛、温、触觉及生理反射存在,病理反射未引出,智力正常.     

外胚层发育不良合并黑棘皮病一例

患者女,15岁,双手足皮肤进行性增厚,伴皱褶部黑斑15年.患儿自出生后,父母即发现其皮肤色较黑,粗糙,无其他异常表现.7个月时出现畏光、流泪,在当地医院就诊,诊断为"脑积水(少量)",经治疗有所好转.     

少汗型外胚层发育不良1例

患儿男,6岁。出生时毛发稀少,皮肤干燥,从小即有不明原因的发热,大多为低热,但最高可达40℃,夏季烦躁,全身无汗,需借助冷水降温,近2年发热缓解,但毛发仍稀疏,平时少汗。5岁时才萌出一颗乳牙,智力发育正常。体格检查:神志清,精神可,身高105cm,体重15kg,营养中等。特殊面容,额部隆起,鼻梁稍塌陷,如马鞍形,上下唇稍厚,皮肤干燥见细小皱纹,眉毛缺如,口周及眼周有放射沟,颊部毛细血管扩张(图1A),头发稀疏,细黄且干燥,枕部尤甚(图1B),躯干及四肢毳毛缺如,牙龈萎缩,仅见双上乳磨牙(图1C),掌跖角化不明显。诊断:少汗型外胚层发育不良。家系调查:患…     

有汗性外胚层发育不良合并腕骨发育不良一例

患儿男,8岁,因出生时毛发稀少、掌跖角化2年于2007年5月就诊于我科.患儿出生时全身毛发稀少,同时伴眉毛缺失,当时未引起家人重视,随年龄的增长,其症状未见任何改善.     

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。     

外胚层发育不良/皮肤脆性综合征我国首例报道

目的 报道我国首例外胚层发育不良/皮肤脆性综合征。方法 对先证者的临床资料、组织病理、透射电镜及免疫组化进行分析。结果 先证者为3岁女孩,主要表现为皮肤脆性增加,受力部位易出现水疱及糜烂,并伴有头发短、稀,甲营养不良和掌跖角化等外胚层发育不良的表现。透射电镜检查显示细胞间连接缺失,细胞间隙增宽,桥粒数目减少和发育不良,张力丝短粗聚集。免疫组化示患者斑菲素蛋白1(plakophilin 1)染色完全缺失。结论 外胚层发育不良/皮肤脆性综合征是罕见的常染色体隐性遗传病,临床表现、透射电镜及免疫组化染色所见具有特征性。     

基因诊断有汗性外胚层发育不良一家系

目的 对一个仅有甲和毛发损害的外胚层发育不良家系进行基因突变研究,以期确定其致病基因,明确临床诊断.方法 共收集该家系7例患者及15例正常家系成员外周血,提取基因组DNA,采用PCR扩增候选基因K16、K17、K6a、K6b和GJB6基因的整个编码序列,DNA直接测序明确具体的突变位置和方式,通过RT-PCR在mRNA水平验证该家系的致病基因.结果 家系所有患者GJB6基因均存在一个杂合错义突变31G→A,导致N-末端区域第11位甘氨酸被精氨酸替代(即G11R),而家系中的15例正常人DNA测序结果均未发现此突变.来源于先证者皮损组织的cDNA测序结果亦证实存在该突变.结论 该家系患者均存在GJB6基因突变,此基因为已知的有汗性外胚层发育不良的致病基因.     

有汗性外胚层发育不良并假阿洪病一例及连接蛋白基因突变检测

目的　对1例有汗性外胚层发育不良并假阿洪病的患者进行了连接蛋白基因突变检测。方法　收集该患者及其正常家属（姐姐）的外周血标本提取总DNA,扩增GJB2、GJB5、GJB6基因的部分编码区序列,双向测序验证基因突变。结果 患者及其姐姐的GJB5、GJB6基因均未检测到突变。在患者GJB2基因检测到2处突变（V27I和V37I）,其姐姐的基因序列未见突变位点。结论　有汗性外胚层发育不良并假阿洪病患者不一定出现GJB6基因突变,可能有别的基因参与致病。     

睑缘粘连-外胚层发育不良-唇/腭裂综合征1例TP63基因突变分析

【摘要】 目的 分析1例睑缘粘连-外胚层发育不良-唇/腭裂综合征患儿的致病基因突变。方法 收集患儿临床资料,提取患儿及其父母外周血DNA,采用高通量测序方法对患儿进行遗传性皮肤病基因靶向测序包检测,确定致病基因突变位点,再用Sanger测序法对患儿及其父母DNA进行双向验证。结果 患儿男,3岁9月龄,生后皮肤广泛红斑、糜烂伴脱屑,头皮反复糜烂感染,愈后躯干、四肢遗留网状色素沉着、色素减退斑及瘢痕,头发稀疏,眉毛、睫毛大部分缺失,腭裂,牙齿发育不良,指趾甲营养不良,耳畸形,未见睑缘粘连。基因检测显示,患儿TP63基因发生新发杂合错义突变c.1790T>A（p.Ile597Asn）,该突变既往未见报道,美国医学遗传学与基因组学学会（ACMG）评级为致病性,患儿父母未携带该突变。结论 TP63基因新发杂合错义突变c.1790T>A可能是本例睑缘粘连-外胚层发育不良-唇/腭裂综合征患儿的致病原因,本研究扩展了该病的基因型与表型谱。     

先天性外胚层发育不良一家系基因突变检测

报道一例先天性外胚层发育不良,该病是一种罕见的异质遗传性疾病,大多为X连锁遗传。本文患者全身毛发稀疏、无汗液分泌伴部分牙齿缺如49年,其女儿部分牙齿缺失,智力二级残疾。该患者基因检测发现突变位点EDA c.463C>T(p.R155C),另一可疑变异位点PRKD1 c.535+3A>G(splicing),变异来源是患者母亲。先天性外胚层发育不良目前尚无有效且获得批准的治疗方法,以对症治疗为主,及时产前筛查诊断可为携带EDA突变的患者提供终止妊娠和产前治疗的机会。     

The uncombable hair syndrome

The uncombable hair syndrome was first described by Dupre as "cheveux incoiffables." Since that time more than fifty cases have been reported. We wish to present three more cases, review the salient features of the syndrome, and describe some new observations.     

A girl with loose anagen hair syndrome and uncombable, spun-glass hair

A 4-year-old girl presented with a 2-year history of scalp hair that had an odd texture, was difficult to manage, tended to "stick out" from the scalp, and was irregular in length. A hair pull test revealed that hairs could be easily and painlessly extracted. Light microscopic examination of the hair demonstrated anagen hairs with a ruffled cuticle and distorted bulb as well as an unusual undulation and grooving of the shafts. These findings are consistent with both loose anagen and uncombable hair syndromes. The occurrence of both syndromes in the same patient seems unlikely, and we propose that our patient has loose anagen hair syndrome with features resembling uncombable hair syndrome.     

有汗性外胚叶发育不良1例

临床资料患儿,女,3岁。主因秃发3年伴掌跖红斑角化脱屑1年,于2008年11月来我科就诊。患者出生时头皮无毛发生长,视力进行性下降,6月龄时于当地医院诊断为"先天性白内瞕",行白内瞕晶状体摘除术。1年前双手指、掌跖部开始出现红斑、脱屑,伴轻度疼痛,皮疹呈进行性加重。患儿发病后皮肤出汗正常     

A case of hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia (HED) is a rare, hereditary, congenital disease that affects several ectodermal structures. It is characterised by the following: anhidrosis or hypohidrosis, dental abnormalities, hypotrichosis, and a characteristic facies. The face shows prominent frontal bosses, supraorbital ridges and depressed bridges. We experienced a case of hypohidrotic ectodermal dysplasia in a 43-year-old male who had four characteristic features. A skin biopsy from the palm showed a total absence of the eccrine glands. The diagnosis was made on the basis of clinical features and skin biopsy findings.     

Anhidrotic ectodermal dysplasia with eruptive vellus hair cysts

A 21‐year‐old white man complained of heat intolerance, absence of sweating, and papular lesions on the forehead. Facial features included a saddle nose, prominent supraorbital edge, and frontal bossing. The scalp hair was scanty, fine, and brittle. Eyelashes and eyebrows were also thin. Subungual hyperkeratosis and dystrophic changes were observed on the finger and toe nails. Hypodontic teeth were detected on oral examination. He was otherwise healthy. Biochemical and hematologic analyses were also normal. Cutaneous examination revealed smooth and dry skin. Multiple, 4–5 mm, brown–black, comedo‐like, soft papules were observed on the forehead ( Fig. 1 ). A biopsy specimen from a papule on the forehead revealed cystic structures lined by squamous epithelium and containing laminated keratinous material and scattered obliquely and transversely cut vellus hairs ( Fig. 2 ). Topical application of 0.1% tretinoin for 2 months produced no clinical improvement.

Figure 1 Open in figure viewer PowerPoint Scanty and fine scalp hair, prominent supraorbital edge and frontal bossing on the face, and brown–black comedo‐like soft papules (arrows) on the forehead     

无汗性外胚层发育不良伴免疫缺陷一例

患儿男,16个月。出生2个月后,反复出现不明原因发热,体温在38 ～ 40 ℃之间,敞开衣物并口服退热药后热退,发热及退热过程中皮肤始终干燥。7个月时行皮肤活检,诊断为无汗性外胚层发育不良。6个月起至今,反复发生上呼吸道感染或肺炎。20 d前,患儿出现舌部破溃糜烂,口周和双手红斑、水疱,伴高热。4 d前,皮疹加重,收入院。皮肤科检查示牙发育不全,仅见2颗门齿,呈上圆下尖的锥形;口唇周围、鼻腔、下颏和双下颌多处破溃糜烂,结厚血痂。臀部、阴囊和下肢见多处溃疡,部分溃疡周围有红斑基础上成簇水疱,中央有脐凹。双手暗紫红色肿胀,伴大量糜烂、结痂和渗出。实验室检查示白细胞和C反应蛋白显著增高,CD3、CD8和自然杀伤细胞降低,IgM降低。I型单纯疱疹病毒IgM抗体阳性。诊断：无汗性外胚层发育不良伴免疫缺陷,播散性单纯疱疹病毒感染。入院后给予更昔洛韦抗病毒治疗和抗生素治疗,辅以营养支持和创面护理,治疗3周后皮疹愈合,痂皮脱落。