Literature DB >> 20548856

A case of non-hallopeau-siemens recessive dystrophic epidermolysis bullosa.

Gyo Shin Kang1, Woo Tae Ko, Jae Hong Kim, Sung Min Choi, Ae Suk Kim, Dong Hoon Kim, Moo Kyu Suh.   

Abstract

Dystrophic epidermolysis bullosa (DEB) is a rare group of heritable mechanobullous disorders that are characterized by blistering and scarring of the skin and mucosae and these lesions are induced by minor trauma, DEB is also associated with nail dystrophy. DEB can be inherited either in an autosomal recessive or dominant fashion. Regardless of the mode of inheritance, DEB is caused by defects of the ultrastructural entity known as the anchoring fibril, which results in separation of the sublamina densa. Recessive DEB (RDEB) is classified into Hallopeau-Siemens and non-Hallopeau-Siemens. We herein report on a case of non-Hallopeau-Siemens RDEB and there was no family history of this malady, and we present the clinical, histological and electron microscopy findings.

Entities:  

Keywords:  Dystrophic epidermolysis bullosa; Non-Hallopeau-Siemens

Year:  2009        PMID: 20548856      PMCID: PMC2883369          DOI: 10.5021/ad.2009.21.1.49

Source DB:  PubMed          Journal:  Ann Dermatol        ISSN: 1013-9087            Impact factor:   1.444


  7 in total

Review 1.  Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.

Authors:  J D Fine; R A Eady; E A Bauer; R A Briggaman; L Bruckner-Tuderman; A Christiano; A Heagerty; H Hintner; M F Jonkman; J McGrath; J McGuire; A Moshell; H Shimizu; G Tadini; J Uitto
Journal:  J Am Acad Dermatol       Date:  2000-06       Impact factor: 11.527

Review 2.  Epidermolysis bullosa in three Chinese neonates.

Authors:  Kam-Lun Ellis Hon; Andrew Burd; Paul Cheung-Lung Choi; Nai-Ming Tommy Luk
Journal:  J Dermatolog Treat       Date:  2007       Impact factor: 3.359

3.  Electron microscopy and morphometry enhances differentiation of epidermolysis bullosa subtypes. With normal values for 24 parameters in skin.

Authors:  A E Jaunzems; A E Woods; A Staples
Journal:  Arch Dermatol Res       Date:  1997-10       Impact factor: 3.017

Review 4.  Genetic abnormalities and clinical classification of epidermolysis bullosa.

Authors:  Yoshihiko Mitsuhashi; Isao Hashimoto
Journal:  Arch Dermatol Res       Date:  2003-01-24       Impact factor: 3.017

5.  Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing.

Authors:  C M Betts; P Posteraro; A M Costa; C Varotti; M Schubert; L Bruckner-Tuderman; D Castiglia
Journal:  Br J Dermatol       Date:  1999-11       Impact factor: 9.302

6.  Recessive dystrophic epidermolysis bullosa: case of non-Hallopeau-Siemens variant with premature termination codons in both alleles.

Authors:  Nozomi Yonei; Toshio Ohtani; Fukumi Furukawa
Journal:  J Dermatol       Date:  2006-11       Impact factor: 4.005

7.  Recessive dystrophic epidermolysis bullosa treated with phenytoin.

Authors:  A A Abahussein; A A al-Zayir; W Z Mostafa; A N Okoro
Journal:  Int J Dermatol       Date:  1992-10       Impact factor: 2.736

  7 in total

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