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先天性大疱性鱼鳞病样红皮病痣样亚型1例

实用皮肤病学杂志 2008年第3期1卷 157-158页

作者：王涛刘跃华俞宝田方凯中国医学科学院北京协和医院皮肤科北京100730

先天性大疱性鱼鳞病样红皮病(bullous congenital ichthyosiform erythroderma,BCIE)最早由Brocq于1907年命名[1],近年来有关本病的报道确定了较多的亚型,其中包括沿Blaschko线的痣样亚型,现将我科诊治的1例报告如下。

关键词：鱼鳞病样红皮病痣样亚型大疱性先天性

1例日本患先天性鱼鳞病样红皮病新生儿被诊断为Netherton综合征

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世界核心医学期刊文摘（皮肤病学分册） 2006年第10期2卷 39-40页

作者： Mizuno Y. Suga Y. Haruna K. 任建文 Department of Dermatology Juntendo UniversitySchoolof Medicine2-1-1HongoBunkyo-kuTokyo 113-8421Japan Dr.

We report a 6-day-old Japanese girl showing generalized erythroderma accompanied by yellowish,exfoliative scaling that was accentuated on the face and *** analysis showed psoriasiform dermatitis with acanthotic epidermis and premature shedding of the stratum *** of trypsin-like hydrolytic activity in SC showed six-fold greater activity compared with age-matched *** analysis revealed two mutations,375delAT and 966insC,in exons5 and 11,respectively,of the SPINK5 *** at 4 weeks the child was still too young to display characteristic hair abnormalities or atopic diathesis,we diagnosed Netherton syndrome based on enzyme assay and DNA analysis.

关键词：鱼鳞病样红皮病泛发性红皮病特应性体质棘层肥厚银屑病样酶测定 DNA 水解活性组织学分析

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先天性非大疱性鱼鳞病样红皮病1例

中国麻风皮肤病杂志 2008年第5期24卷 390-391页

作者：王卫亮谢汝汉广东省阳江市人民医院皮肤科阳江529500

临床资料患者女,12岁,广东人.因全身皮肤潮红、脱屑,伴轻度瘙痒12年来诊.患者12年前出生时全身皮肤表面被覆一层淡黄色膜状物,剥去膜状物,可见全身皮肤潮红,表面覆有鱼鳞样黄色厚痂皮.

关键词：鱼鳞病样红皮病大疱性先天性皮肤潮红复方蛇脂软膏医院诊断毛发红糠疹复合维生素

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大疱性鱼鳞病样红皮病1例

中国皮肤性病学杂志 1999年第6期13卷 364-364页

作者：付萍周晓鸿冒长峙袁志伟昆明医学院第二附属医院皮肤科 650101 昆明医学院第二附属医院病理科

患儿女,8月龄,因全身皮肤反复发生红斑、脱屑8个月就诊。其母诉称患儿出生后次日即出现全身皮肤红斑及脱屑,并有蚕豆大小水疱数个。疱壁薄,轻触碰即破,约1周疱干涸,形成鳞屑,反复发作至今。有时水疱较大如核桃。患儿系34周早产儿。母孕... 详细信息

患儿女,8月龄,因全身皮肤反复发生红斑、脱屑8个月就诊。其母诉称患儿出生后次日即出现全身皮肤红斑及脱屑,并有蚕豆大小水疱数个。疱壁薄,轻触碰即破,约1周疱干涸,形成鳞屑,反复发作至今。有时水疱较大如核桃。患儿系34周早产儿。母孕期无上感及特殊用药史。父母非近亲婚配,生育2胎,长子已14岁,健康。患儿为第2胎。家族中无类似疾病及鱼鳞病等皮肤病史。患儿发育差,消瘦,体重5ｋｇ,余未见特殊。皮肤科情况:全身皮肤除颜面外弥漫性潮红、干燥及脱屑,几乎无正常皮肤可见。双小腿伸侧可见大小不等的疣状角化鳞屑性损害。左小腿有蚕豆至5分币大小松弛性大疱3个,尼氏征(+)。双手足板状角质增厚,大片状脱屑。甲、口腔粘

关键词：大疱性鱼鳞病样红皮病诊断治疗

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先天性鱼鳞病样红皮病1例报道

中国优生与遗传杂志 2001年第5期9卷 27-27页

作者：卢宝庭楼丽君浙江省湖州市妇幼保健院遗传室 313000

病例:患儿为足月头胎,由臀位牵引助产出生.出生时即发觉患儿皮肤潮红,发亮,多处干裂脱屑,请求遗传咨询.

关键词：先天性鱼鳞病样红皮病临床

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非大疱性先天性鱼鳞病样红皮病1例

皮肤病与性病 2013年第5期35卷 304-304页

作者：舒虹昆明市儿童医院皮肤科云南昆明650032

1 病例摘要患儿,男,1岁2月,保山施甸县人.因全身皮肤红斑、鳞屑1年余于2012年9月11日来诊.患儿出生后即发现面、躯干皮肤红斑、皮肤粗糙,瘙痒不明显.在当地医院就诊诊断为＂湿疹＂并外搽激素类软膏,自觉疗效不明显,皮损逐渐发展严重,面... 详细信息

1 病例摘要患儿,男,1岁2月,保山施甸县人.因全身皮肤红斑、鳞屑1年余于2012年9月11日来诊.患儿出生后即发现面、躯干皮肤红斑、皮肤粗糙,瘙痒不明显.在当地医院就诊诊断为＂湿疹＂并外搽激素类软膏,自觉疗效不明显,皮损逐渐发展严重,面积增大,渐渐出现灰黑色鳞屑.父母发现其智力发育较其他正常婴儿迟缓,仅能扶站,发简单音.病程中无发热,无乏力,无长期腹泻史.患儿为足月顺产,出生时无窒息史.按时接种疫苗.母乳喂养.父母非近亲结婚,仅育此1子.

关键词：鱼鳞病样红皮病先天性大疱性皮肤红斑激素类软膏病例摘要皮肤粗糙医院就诊

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迪银片治疗先天性鱼鳞病样红皮病1例

实用医技杂志 2008年第10期15卷 1352-1352页

作者：毛辉黄石市中心医院湖北黄石435000

患者，女，18岁。因全身性红斑、鳞屑18a，加重1a，于1997年10月30日以“先天性鱼鳞病样红皮病”入院。患者生后不久全身弥漫性红斑、鳞屑，随年龄增长渐加重，近1年来尤其明显，偶微痒，皮疹冬重夏轻。无发热、乏力、头昏、腹痛、关节... 详细信息

患者，女，18岁。因全身性红斑、鳞屑18a，加重1a，于1997年10月30日以“先天性鱼鳞病样红皮病”入院。患者生后不久全身弥漫性红斑、鳞屑，随年龄增长渐加重，近1年来尤其明显，偶微痒，皮疹冬重夏轻。无发热、乏力、头昏、腹痛、关节痛等症状。曾在外院以“鱼鳞病”诊治，外用“尿素软膏、水杨酸软膏、强地松霜”等，口服“维生素A、E胶丸”及中药治疗，疗效欠佳。入院时系统检查未见明显异常。

关键词：鱼鳞病样红皮病中药治疗先天性迪银片水杨酸软膏尿素软膏维生素A 疗效欠佳

日本2例Netherton综合征同胞患者SPINK5基因的新突变:LEKTI及其他表皮分子的免疫组化研究

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世界核心医学期刊文摘（皮肤病学分册） 2006年第2期2卷 37-38页

作者： Shimomura Y. Sato N. Kariya N. 焦婷 Department of Dermatology Niigata University School of MedicineAsahimachi- doriNiigata 951- 8510 Japan

Background: Netherton syndrome (NS) is a severe autosomal recessive disorder characterized by ichthyosiform erythroderma, bamboo hair and atopy. The disease is caused by mutations in the SPINK5 gene, which encodes a putative serine protease inhibitor, LEKTI (lymphoepithelial Kazal- type- related inhibitor). Previous studies have clearly shown a crucial role for LEKTI in skin barrier formation. Objectives: To identify pathogenic mutations in two Japanese siblings with NS, and further to investigate the consequences of the mutations at the protein level. Methods: To screen for mutations in the SPINK5 gene, all of its exons and splice junctions were amplified by polymerase chain reaction and directly sequenced. In addition, immunohistochemical staining of LEKTI, desmoglein (Dsg) 1 and elafin was performed with their specific antibodies. Results: Mutation analysis resulted in the identification of compound heterozygous mutations, Q713X and R790X, in the SPINK5 gene of both patients. The former one is a novel mutation. Immunohistochemical studies in one patient demonstrated a complete absence of LEKTI and a strong expression of elafin in the patient’ s skin. Dsg1 was normally expressed in our patient. Conclusions: In this report, we describe compound heterozygous mutations in the SPINK5 gene in two Japanese siblings with NS. The result of immunohistochemistry shows LEKTI deficiency and upregulation of elafin in the skin of one patient. Furthermore, our data indicate that degradation of Dsg1 does not always occur in NS.

关键词：免疫组化研究 SPINK5 LEKTI 基因突变鱼鳞病样红皮病直接测序桥粒芯蛋白免疫组化染色

3代患CHILD综合征:轻度或极轻度皮肤损害的重要性

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世界核心医学期刊文摘（皮肤病学分册） 2006年第5期2卷 22-23页

作者： Bittar M. Happle R. Grzeschik K.-H. 焦婷 Department of Dermatology National University of Cuyo Jujuy 134 Apt 1 M5500DDD Mendoza Argentina Dr.

Background: CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects, On-line Mendelian Inheritance in Man 308050) is an X-linked dominant trait with lethality for male embryos. The disorder is caused by mutations in NSDHL (Online Mendelian Inheritance in Man 300275), a gene playing an important role in the cholesterol biosynthetic pathway. Most reports deal with sporadic cases, and only 5 cases of mother-to-daughter transmission have been documented. We present here a family with mild features of CHILD syndrome in 3 generations. Molecular analysis was used to confirm the diagnosis. Observations: We studied 14 members of a family with CHILD syndrome. The 23-year-old proposita, her mother, 2 aunts, and her grandmother presented with mild or minimal skin lesions that had been present since infancy. Analysis of the NSDHL gene showed missensemutation c.370G→ A in these 5 patients. This mutation was absent in the 9 clinically unaffected family members tested. Conclusions: In this family,we recognized CHILD syndrome with mild or minimal features in 3 generations because we were able to verify our clinical diagnosis by means of molecular analysis. We assume that many cases that so far have been considered sporadic may in fact be familial when a meticulous physical examination of female family members is combined with molecular testing.

关键词： CHILD综合征偏侧发育不良鱼鳞病样红皮病显性遗传病皮损特点分子生物学方法先证者基因突