Epidermolysis bullosa dystrophica praetibialis Q81.8

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

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

Etiopathogenesis
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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.

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

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020