Epidermolysis bullosa junctionalis with hypacusis Q81.0
Synonym(s)
Epidermolysis bullosa dystrophica with hypacusis; Epidermolysis bullosa progressive
History
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Gedde-Dahl, 1971
Definition
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Autosomal-recessive inherited junctional epidermolysis of the dystrophic type with late manifestation and sensorineural hearing loss.
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Etiopathogenesis
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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).
Manifestation
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Childhood and adolescence.
Clinic
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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 diagnosis
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Therapy
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No specific therapy known. External symptomatic therapy depending on the clinic, see below Epidermolysis bullosa group.
Literature
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- Gedde-Dahl T Jr (1971) Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study. (Baltimore) Johns Hopkins Univ Press: 1-180
- Gedde-Dahl T Jr (1984) The epidermolysis bullosa progressive hypoacusis (EBR3-HOAC) linkage. Cytogenet Cell Genet 37: 474
- Gedde-Dahl T Jr (1987) Epidermolysis bullosa syndromes. Curr Probl Derm 16: 129-145
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Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
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Prof. Dr. med. Peter Altmeyer