Literature DB >> 939338

Epidermolysis bullosa hereditaria with junctional blistering in an adult.

I Hashimoto, U W Schnyder, I Anton-Lamprecht.   

Abstract

A 38-year-old patient with epidermolysis bullosa is described, in whom junctional blister formation is revealed by electron microscopy. Clinical and ultrastructural differences from the recessive dystrophic type (Hallopeau-Siemens) and from the lethal type (Herlitz) of epidermolysis bullosa are discussed in detail.

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Year:  1976        PMID： 939338     DOI： 10.1159/000251166

Source DB:  PubMed          Journal:  Dermatologica        ISSN： 0011-9075


  9 in total

1.  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

2.  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

3.  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

4.  Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.

Authors:  H Schumann; N Hammami-Hauasli; L Pulkkinen; A Mauviel; W Küster; U Lüthi; K Owaribe; J Uitto; L Bruckner-Tuderman
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

5.  Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy.

Authors:  I Anton-Lamprecht
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Ultrastructural studies in epidermolysis bullosa hereditaria. IV. Recessive dystrophic types with junctional blistering. (Infantile or Herlitz-Pearson type and adult type).

Authors:  I Hashimoto; T Gedde-Dahl; U W Schnyder; I Anton-Lamprecht
Journal:  Arch Dermatol Res       Date:  1976-11-26       Impact factor: 3.017

7.  Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.

Authors:  J A McGrath; B Gatalica; K Li; M G Dunnill; J R McMillan; A M Christiano; R A Eady; J Uitto
Journal:  Am J Pathol       Date:  1996-06       Impact factor: 4.307

8.  Ultrastructural studies in epidermolysis bullosa hereditaria. III. Recessive dystrophic types with dermolytic blistering (Hallopeau-Siemens types and inverse type).

Authors:  I Hashimoto; U W Schnyder; I Anton-Lamprecht; T Gedde-Dahl; S Ward
Journal:  Arch Dermatol Res       Date:  1976-08-27       Impact factor: 3.017

9.  180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa.

Authors:  M F Jonkman; M C de Jong; K Heeres; H H Pas; J B van der Meer; K Owaribe; A M Martinez de Velasco; C M Niessen; A Sonnenberg
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808
  9 in total

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