Literature DB >> 7092249

Generalized atrophic benign epidermolysis bullosa.

H Hintner, K Wolff.   

Abstract

Eight cases of a new variant of hereditary epidermolysis bullosa (EB), generalized atrophic benign EB, are reported. This is a junctional form of EB that, in contrast to EB letalis of Herlitz, has a good prognosis. It is inherited as an autosomal recessive trait, and the clinical picture is monotonously similar in all patients observed so far, with generalized blister formation, atrophic alopecia, and dystrophic nail changes. Blisters on the skin and mucous membranes heal without scarring or dystrophy but often result in notable atrophy. There is a definite tendency for amelioration of symptoms as the patients age, but therapy has, so far, been ineffective.

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Mesh:

Year:  1982        PMID: 7092249

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN: 0003-987X


  18 in total

1.  Collagen XVII (BP180) modulates keratinocyte expression of the proinflammatory chemokine, IL-8.

Authors:  Françoise Van den Bergh; Steven L Eliason; Brian T Burmeister; George J Giudice
Journal:  Exp Dermatol       Date:  2012-08       Impact factor: 3.960

2.  Type XVII collagen (BP180) can function as a cell-matrix adhesion molecule via binding to laminin 332.

Authors:  F Van den Bergh; S L Eliason; G J Giudice
Journal:  Matrix Biol       Date:  2010-10-26       Impact factor: 11.583

3.  Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

Authors:  R Varki; S Sadowski; E Pfendner; J Uitto
Journal:  J Med Genet       Date:  2006-02-10       Impact factor: 6.318

4.  Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia.

Authors:  V Nazzaro; U Nicolini; L De Luca; E Berti; R Caputo
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

5.  Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).

Authors:  L Pulkkinen; D U Kim; J Uitto
Journal:  Am J Pathol       Date:  1998-01       Impact factor: 4.307

6.  Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.

Authors:  B Gatalica; L Pulkkinen; K Li; K Kuokkanen; M Ryynänen; J A McGrath; J Uitto
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

Review 7.  Melanocytes, melanocyte stem cells, and melanoma stem cells.

Authors:  Deborah Lang; Joseph B Mascarenhas; Christopher R Shea
Journal:  Clin Dermatol       Date:  2013 Mar-Apr       Impact factor: 3.541

Review 8.  Cell-matrix adhesion of podocytes in physiology and disease.

Authors:  Norman Sachs; Arnoud Sonnenberg
Journal:  Nat Rev Nephrol       Date:  2013-01-22       Impact factor: 28.314

9.  Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.

Authors:  Anna M G Pasmooij; Hendri H Pas; Franciska C L Deviaene; Miranda Nijenhuis; Marcel F Jonkman
Journal:  Am J Hum Genet       Date:  2005-09-09       Impact factor: 11.025

Review 10.  Inherited epidermolysis bullosa.

Authors:  Jo-David Fine
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123

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