Epidermolysis bullosa junctionalis with hypacusisQ81.0

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 10.01.2022

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Synonym(s)

Epidermolysis bullosa dystrophica with hypacusis; Epidermolysis bullosa progressive

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HistoryThis section has been translated automatically.

Gedde-Dahl, 1971

DefinitionThis section has been translated automatically.

Autosomal-recessive inherited junctional epidermolysis of the dystrophic type with late manifestation and sensorineural hearing loss.

EtiopathogenesisThis section has been translated automatically.

This is caused by mutations in one of the two genes for the subunits of the alpha6-beta4 integrin, ITGA6 (2q31.1) and ITGB4 ( 17q11-qter).

ManifestationThis section has been translated automatically.

Childhood and adolescence.

Clinical featuresThis section has been translated automatically.

Spontaneous, progressive blistering, onychodystrophy, diffuse and progressive skin atrophy in affected areas, occasional involvement of the oral mucosa Congenital, progressive neurogenic inner ear hearing loss.

Differential diagnosisThis section has been translated automatically.

Epidermolysis bullosa group.

TherapyThis section has been translated automatically.

No specific therapy known. External symptomatic therapy depending on the clinic, see below Epidermolysis bullosa group.

LiteratureThis section has been translated automatically.

  1. Gedde-Dahl T Jr (1971) Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study. (Baltimore) Johns Hopkins Univ Press: 1-180
  2. Gedde-Dahl T Jr (1984) The epidermolysis bullosa progressive hypoacusis (EBR3-HOAC) linkage. Cytogenet Cell Genet 37: 474
  3. Gedde-Dahl T Jr (1987) Epidermolysis bullosa syndromes. Curr Probl Derm 16: 129-145

Authors

Last updated on: 10.01.2022

Author: Prof. Dr. med. Peter Altmeyer