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Epidermolysis bullosa dystrophica praetibialisQ81.8

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

EBJ localisata; epidermolysis bullosa junctionalis localisata

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DefinitionThis section has been translated automatically.

Single case with subepidermal to junctional blistering of the lower legs and feet, hyperkeratotic plaques on pressure points, nail deformities and enamel anomalies.

EtiopathogenesisThis section has been translated automatically.

mutation in the gene for collagen XVII (COL 17A1), which is mapped on chromosome 10q24.3 The mutation leads to the formation of non-functional collagen XVII.

TherapyThis section has been translated automatically.

No specific therapy known. Externally symptomatic, see below Epidermolysis bullosa group.

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer