Localized junctional epidermolysis bullosa

Orpha code: 251393OMIM code: 226650

Definition

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
Classification

Disease

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

No additional description.

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