Literature DB >> 1002472

[Epidermolysis bullosa dystrophica inversa: report on 2 sisters].

I Hashimoto, I Anton-Lamprecht, M Hofbauer.   

Abstract

Two sister cases of epidermolysis bullosa dystrophica inversa are reported. This type, first described by Gedde-Dahl (1971), is characterized by the inverse site of skin involvement, the intermittent course, frequent traumatic corneal erosions, retarded development of skin atrophy and absence of milia formation. Our present cases had all these characteristics except the corneal involvement. The pedigree of this family favors an autosomal recessive mode of inheritance; no consanguinity is demonstrable in the ancestors over four generations. Electron microscopic examination in one of the patients reveals the blistering beneath the basal lamina, which suggests that the pathogenesis may be similar to the Hallopeau-Siemens type rather than to the junctional type of epidermolysis bullosa.

Entities:  

Mesh:

Year:  1976        PMID: 1002472

Source DB:  PubMed          Journal:  Hautarzt        ISSN: 0017-8470            Impact factor:   0.751


  3 in total

1.  Epidermolysis bullosa with unusual features: inversa type.

Authors:  C M Ridley
Journal:  Proc R Soc Med       Date:  1977-08

2.  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

3.  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

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.