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Локалізований межовий бульозний епідермоліз

ORPHA:251393· ICD-10 Q81.8· Localized junctional epidermolysis bullosa

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Infancy, Neonatal