营养不良型大疱性表皮松解症

营养不良型大疱性表皮松解症是一组以皮肤或黏膜脆性增加,轻微外伤即可引起水疱、大疱,愈后留有萎缩性瘢痕的常染色体遗传性皮肤病.基因连锁研究证实本病是由于Ⅶ型胶原基因突变导致单个甘氨酸被替换,从而影响到Ⅶ型胶原三螺旋结构的稳定,阻碍蛋白分子的分泌并促使蛋白降解,导致锚状纤维的组成和功能异常.随着分子生物学技术的发展,对本病的发病机制的认识不断深入,本文就其目前研究现状作一综述.     

白色丘疹样营养不良型大疱性表皮松解症1例

营养不良型大疱性表皮松解症（DEB）是以皮肤、粘膜脆性增加，容易出现水疱、大疱的遗传性皮肤病。其特点是皮肤在受到轻微摩擦后就出现水疱及大疱，该病从轻型到重型发病率约为1／5万～1／50万，其致病原因不同，分类各家也有差异。我们遇到一例少见的白色丘疹样营养不良型大疱性表皮松解症，报告如下。     

痒疹型营养不良性大疱性表皮松解症1例

报告痒疹型营养不良性大疱性表皮松解症1例。患者男，23岁，因胸、背、双上臂起皮疹9年就诊。皮损病理示：表皮下裂隙形成，其下小血管增生、扩张，管周少量噬色素细胞，淋巴组织细胞浸润。     

痒疹样营养不良型大疱性表皮松解症1例

报告1例痒疹样营养不良型大疱性表皮松解症.患者女,41岁,双小腿丘疹、结节伴瘙痒2年余.皮肤科检查:双小腿伸侧可见密集米粒至花生大小丘疹、结节,周边有色素沉着,部分表面抓痕、糜烂.皮损组织病理:表皮角化过度,真表皮交界处可见裂隙,真皮浅层散在角囊肿,浅层血管周围可见散在淋巴浆细胞及个别嗜酸性粒细胞浸润.免疫荧光:C3(...     

遗传性营养不良型大疱性表皮松解症1例

大疱性表皮松解症（DEB）是一组遗传性皮肤病，表现为皮肤和黏膜受轻微机械性损伤后或自动形成大疱或血疱。根椐临床、遗传方式及病理组织中大疱的位置，该组皮肤病分为表皮内型（单纯性）、交界性和营养不良性大疱性表皮松解症三类，其中营养不良型又分为显性遗传（RDEB）和隐性遗传（DDEB）两种亚型。我们遇到1例轻型隐性遗传营养不良型大疱性表皮松解症，现报道如下。     

痒疹样营养不良型大疱性表皮松解症1例

痒疹样营养不良型大疱性表皮松解症是大疱性表皮松解症这一组遗传性疾病中显性营养不良型的一个亚型，临床易被误诊，我们在临床见到1例，现报道如下。     

痒疹样营养不良型大疱性表皮松解症

患者女，46岁。主诉：全身皮肤红色丘疹、水疱伴瘙痒30余年。现病史：患者30余年前无明显诱因双小腿及双前臂皮肤瘙痒，搔抓或轻度碰撞、摩擦后易出现水疱，水疱糜烂结痂痊愈后留有瘢痕样红色丘疹。部分皮损表面出现白色粟粒样丘疹，可挤出小的白色颗粒。病情迁延不愈，皮损渐增多并蔓延至四肢近端及躯干。患者患病期间曾在多家医院诊治，曾诊断为“痒疹”、“结节性痒疹”、“皮肤淀粉样变”等疾病，口服“泼尼松”、“氯雷他定(开瑞坦)”、“西替利嗪”等药物，外用“丙酸氯倍他索霜(金血尔)”、“曲安西龙(去炎松)霜”等药物，疗效不明显，遂来我院就诊。     

痒疹型营养不良型大疱性表皮松解症一家系56例

先证者女, 64岁。四肢、躯干皮肤反复起水疱、白色丘疹 50余年。 50余年前右小腿擦伤后起米粒大皮色水疱多个,伴瘙痒,抓后水疱扩大,破后有少量渗液,约经 1周愈合。 1年后同部位皮疹复发并向四周皮肤扩展,在水疱部位及其周围皮肤起白色鱼籽状丘疹,丘疹增多时瘙痒加剧,剥离表皮或痂皮后可挤出白色鱼籽大实质性颗粒,愈后遗留粟米至米粒大瘢痕。 30年前皮疹扩展至左前臂伸侧皮肤,近 6年皮疹扩展至骶部和四肢其他部位。水疱在夏季多,冬季减少。进食香菜、蟹、海鱼、虾类食物能诱发皮疹增多。先证者仅有一女儿趾甲增厚呈黑褐色,真菌学…     

泛发性白色丘疹样营养不良型大疱性表皮松解症1例

白色丘疹样营养不良型大疱性表皮松解症是一种少见的遗传性疾病，其皮损泛发者更为少见，现将我们所见1例泛发性白色丘疹样营养不良型大疱性表皮松解症报道如下。     

中西医结合治疗胫前型营养不良型大疱性表皮松解症1例

患者男,48岁。双下肢红斑、水疱、结节伴瘙痒40年,加重10年。皮肤科情况：双侧足背、胫前红斑、水疱、瘢痕及粟丘疹,可见甲营养不良伴部分趾甲脱落,尼氏征阴性。皮损组织病理示：表皮角化过度,表皮下见一裂隙,真皮浅层细血管增生伴纤维细胞增生,裂隙旁见粟丘疹样角质囊肿。诊断：胫前型营养不良型大疱性表皮松解症。经中西医结合治疗后病情缓解,现仍在随访中。     

Hallopeau-Siemens' congenital epidermolysis bullosa dystrophica

Examination of apparently intact skin of patients with generalized Hallopeau-Siemens' dystrophic epidermolysis bullosa has shown that this condition may be diagnosed histologically only in case of manifest changes. If there are no apparent changes, examination of ultrathin sections of the skin should be used. Further studies are necessary to define the diagnostic and prognostic values of the detected changes for prenatal diagnosis.     

Collagen biosynthesis in a case of epidermolysis bullosa dystrophica recessiva

Collagen metabolism was studied in fibroblast cultures from a patient presenting an epidermolysis bullosa dystrophica recessiva (EBDR) syndrome characterized, in particular, by blistering below the basal lamina observed by electron microscopy. The previously described increase in collagen production was confirmed and several other qualitative modifications of the secreted collagen were observed, including an underhydroxylation of lysine, a decrease in the type III/type I collagen ratio, and an increase in the rapidly degraded collagen. On the other hand, these fibroblasts were able to organize and contract collagen to form a dermal equivalent like normal fibroblasts. Normal keratinocytes can grow and form an epidermal sheet on the surface of these dermal equivalents including normal or pathological fibroblasts.     

白色丘疹样显性营养不良型大疱性表皮松解症一家系报告

临床资料先证者,男,11岁,躯干、四肢皮肤反复发疹伴剧烈瘙痒10年,于2007年3月14日来我科就诊。患者未满2岁时,无明显诱因于躯干四肢反复发生丘疱疹,皮疹瘙痒明显,尤以夜间为甚,皮损随着年龄的增长而加重,愈后局部有轻度的增生性疤痕。     

Zur pathomorphogenese der blasenbildung bei epidermolysis bullosa acquisita und epidermolysis bullosa dystrophica

Zusammenfassung Elektronenmikroskopische Untersuchungen an Hautläsionen je eines Falles von Epidermolysis bullosa dystrophica recessiva (E.b.d.r.) und Epidermolysis bullosa acquisita (E.b.a.) bei Morbus Crohn ergaben, daß die Blasenbildung bei beiden Erkrankungen zwischen Epidermis und Dermis unterhalb der Basallamina erfolgt. Der strukturelle Defekt betrifft nur die anchoring fibrils, welche an der Junktionszone der klinisch befallenen Haut fehlen. Die übrigen für die Verknüpfung von Epidermis und Dermis notwendigen Haftstrukturen sind dagegen intakt.Unterhalb der Basalmembran findet sich bei der E.b.a. eine bandförmige Zone eines mäßig elektronendichten amorphen Materials, welches bei der E.b.d. weniger ausgeprägt ist.Direkte Immunfluorescenzuntersuchungen an befallener Haut bei E.b.a. ergaben ein Pemphigoid-ähnliches Fluorescenzmuster an der Basallamina nach Beschichtung mit Anti-IgG-,-IgM-, - _1c/ _1a- und der C_1q-Komponente. Bei der E.b.d. fand sich nur ein Fluorescenzstreifen mit Anti-IgG- und Anti- _1c/ _1a.Die pathogenetische Bedeutung der Immunglobulinablagerungen an der Basallamina wird unter Berücksichtigung des Fehlens von anchoring fibrils und der daraus folgenden Blasenbildung bei diesen epidermolytischen Erkrankungen diskutiert.

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Pathomorphogenesis of blistering in epidermolysis bullosa acquisita and epidermolysis bullosa dystrophica

Summary Electronmicroscopical examination on skin lesions of epidermolysis bullosa dystrophica recessiva (E.b.d.r.) and epidermolysis bullosa acquisita (E.b.a.) associated with Crohn's disease have demonstrated that blistering occurs between epidermis and dermis beneath the basal lamina. The structural defect concerns the anchoring fibrils only which are missing in the junctional zone of the involved skin. All other junctional structures are intact.Beneath the basal lamina a band-like zone of a moderate electrondense, amorphous material is seen in the skin-lesions of epidermolysis bullosa acquisita, less marked in epidermolysis bullosa dystrophica.Direct immunofluorescent investigation of involved skin of E.b.a. shows a pemphigoidlike fluorescent pattern at the basal lamina with antihuman IgG-, -IgM-, - _1c/ _1a and antihuman C_1q-component. In epidermolysis bullosa dystrophica, however, a fluorescent pattern at the basal lamina was found only with anti-human IgG and Anti-C₃.The pathogenetic importance of the immunoglobuline-deposits at the basal lamina is discussed in regard of the loss of anchoring fibrils and the subsequent vesication in these types of epidermolytic diseases.

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Auszugsweise vorgetragen auf dem 2. Oberkochener Gespräch am 3. u. 4. April 1975.     

Death from colonic disease in epidermolysis bullosa dystrophica

Background

Squamous cell carcinomas and renal failure were reported the causes of death in patients with recessive dystrophic epidermolysis bullosa (RDEB). Death from colonic disease in epidermolysis bullosa (EB) is never reported.

Case presentation

We demonstrate a male patient with RDEB. He suffered megacolon due to fecal impaction and died from sigmoid colon perforation with peritonitis at age 35 years.

Conclusion

Constipation is a common clinical feature of RDEB, but fetal complications of chronic constipation are rarely reported. To the author's best knowledge, it has not been reported or recognized in the English literature previously. The aggressive assessment of constipation with fecal impaction is recommended in patients with RDEB.