• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Epidermolysis bullosa simplex associated with muscular dystrophy: a new case.

作者信息

Patrizi A, Di Lernia V, Neri I, Badiali De Giorgi L, Masi M

机构信息

Department of Dermatology, University of Bologna, Italy.

出版信息

Pediatr Dermatol. 1994 Dec;11(4):342-5. doi: 10.1111/j.1525-1470.1994.tb00102.x.

DOI:10.1111/j.1525-1470.1994.tb00102.x
PMID:7899187
Abstract

We report an infant with a rare form of epidermolysis bullosa simplex characterized by an autosomal recessive pattern of inheritance, severe cutaneous involvement, oral and nail lesions, associated with muscular dystrophy, and a poor prognosis, due to extracutaneous disease. In addition to the usual presentation of this disease, our patient had severe anemia, with immature circulating white cells, and bone marrow histology suggestive of a pre-leukemic state, a finding which has not before been reported in the literature.

摘要

相似文献

1
Epidermolysis bullosa simplex associated with muscular dystrophy: a new case.
Pediatr Dermatol. 1994 Dec;11(4):342-5. doi: 10.1111/j.1525-1470.1994.tb00102.x.
2
Pediatric Ophthalmoplegia and Ptosis in Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy.单纯性大疱性表皮松解症合并肌营养不良症中的小儿眼肌麻痹和上睑下垂
J Pediatr Ophthalmol Strabismus. 2018 Aug 29;55:e26-e29. doi: 10.3928/01913913-20180806-03.
3
Ptosis and ophthalmoplegia associated with epidermolysis bullosa simplex-muscular dystrophy.单纯型大疱性表皮松解症-肌肉营养不良伴发的上睑下垂和眼肌麻痹。
Ophthalmic Plast Reconstr Surg. 2010 Nov-Dec;26(6):488-9. doi: 10.1097/IOP.0b013e3181e2f984.
4
Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases.常染色体隐性单纯性大疱性表皮松解症。具有提示交界性或营养不良性大疱性表皮松解症的全身性表型特征,且与神经肌肉疾病相关。
Arch Dermatol. 1989 Jul;125(7):931-8. doi: 10.1001/archderm.125.7.931.
5
Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation.左心室致密化不全心肌病与单纯性大疱性表皮松解症合并肌肉营养不良及PLEC1突变相关。
Neuromuscul Disord. 2015 Feb;25(2):165-8. doi: 10.1016/j.nmd.2014.09.011. Epub 2014 Oct 2.
6
Epidermolysis bullosa simplex with muscular dystrophy.单纯型大疱性表皮松解症伴肌肉营养不良。
Dermatol Clin. 2010 Apr;28(2):245-55, viii. doi: 10.1016/j.det.2010.01.001.
7
Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy.伴有27年肌营养不良病史的网蛋白缺陷型单纯性大疱性表皮松解症。
J Dermatol Sci. 2005 Feb;37(2):87-93. doi: 10.1016/j.jdermsci.2004.11.003. Epub 2004 Dec 22.
8
Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations.新型PLEC变异导致轻度皮肤脆弱、幽门闭锁、肌肉萎缩症和泌尿系统表现。
Acta Derm Venereol. 2019 Dec 1;99(13):1309-1310. doi: 10.2340/00015555-3317.
9
Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.由于一种新的网蛋白基因突变导致单纯性大疱性表皮松解症合并肌肉营养不良时出现严重黏膜受累。
Eur J Pediatr. 2004 Apr;163(4-5):218-22. doi: 10.1007/s00431-004-1410-4. Epub 2004 Feb 13.
10
Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.新型常染色体隐性LAMA3和PLEC变异是两个近亲家庭中交界型大疱性表皮松解症全身中间型和单纯型大疱性表皮松解症合并肌肉营养不良的病因。
Clin Exp Dermatol. 2018 Aug;43(6):752-755. doi: 10.1111/ced.13610. Epub 2018 May 23.

引用本文的文献

1
Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations.病例报告:伴有先天性心脏病和二尖瓣钙化的6型艾卡迪-古铁雷斯综合征及对称性遗传性色素沉着异常——由作用于RNA 1基因的腺苷脱氨酶纯合突变引起的表型变异
Front Pediatr. 2022 Jun 27;10:852903. doi: 10.3389/fped.2022.852903. eCollection 2022.
2
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.单纯性大疱性表皮松解症合并肌营养不良。文献综述及病例报告。
J Dermatol Case Rep. 2016 Nov 30;10(3):39-48. doi: 10.3315/jdcr.2016.1231.