Literature DB >> 6953718

Sixteen types of epidermolysis bullosa. On the clinical discrimination, therapy and prenatal diagnosis.

T Gedde-Dahl.   

Abstract

The 16 types of hereditary epidermolysis bullosa and the acquired type have been reviewed elsewhere (25). After a brief summary of the genetic and electron-microscopical diagnosis, this article discusses clinical signs and symptoms that are of help in discriminating between the different epidermolysis bullosa entities. Several distinct entities with identical electron-microscopical findings but very different course and prognosis exist. Despite the great value of an electron-microscopic diagnosis, minute clinical observation is therefore as important as ever. Recent advances in therapy and prenatal diagnosis are discussed.

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Year:  1981        PMID: 6953718

Source DB:  PubMed          Journal:  Acta Derm Venereol Suppl (Stockh)        ISSN: 0365-8341


  13 in total

1.  Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.

Authors:  M Ryynänen; J Ryynänen; S Sollberg; R V Iozzo; R G Knowlton; J Uitto
Journal:  J Clin Invest       Date:  1992-03       Impact factor: 14.808

2.  Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

Authors:  M Ryynänen; R G Knowlton; J Uitto
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

Review 3.  Keratin gene mutations in human skin disease.

Authors:  H P Stevens; M H Rustin
Journal:  Postgrad Med J       Date:  1994-11       Impact factor: 2.401

4.  Vesiculo-bullous disorders in childhood.

Authors:  R M McKay
Journal:  Can Fam Physician       Date:  1987-11       Impact factor: 3.275

5.  Very late antigen (VLA) expression in various forms of epidermolysis bullosa simplex.

Authors:  V Nazzaro; E Berti; R Cavalli; A Brusasco; R Caputo
Journal:  Arch Dermatol Res       Date:  1991       Impact factor: 3.017

6.  Anaesthesia for children with junctional epidermolysis bullosa (letalis).

Authors:  R S Holzman; H M Worthen; K L Johnson
Journal:  Can J Anaesth       Date:  1987-07       Impact factor: 5.063

7.  Epidermolysis bullosa herpetiformis (Dowling-Meara type) exhibits ultrastructural derangement of tonofilaments and desmosomes.

Authors:  M Furumura; S Imayama; Y Hori
Journal:  Arch Dermatol Res       Date:  1994       Impact factor: 3.017

8.  Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia.

Authors:  M Colombi; R Gardella; N Zoppi; L Moro; D Marini; N K Spurr; S Barlati
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

Review 9.  Oral manifestations in the epidermolysis bullosa spectrum.

Authors:  J Timothy Wright
Journal:  Dermatol Clin       Date:  2010-01       Impact factor: 3.478

10.  Linkage of epidermolysis bullosa simplex to keratin gene loci.

Authors:  K E McKenna; A E Hughes; E A Bingham; N C Nevin
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

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