Localized junctional epidermolysis bullosa

Orpha code: 251393OMIM code: 226650

Definicja

A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.

Disease data
Klasyfikacja

Disease

Synonimy
JEB-nH loc
Junctional epidermolysis bullosa, non-Herlitz localized type
Localized JEB
Kod ORPHA
251393
Kod OMIM
226650
Kod ICD10
Q81.8
Kod ICD11
-

No additional description.

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