/junctional epidermolysis bullosa, non-Herlitz type

junctional epidermolysis bullosa, non-Herlitz type

Rare Disease

MONDO:0009180

Also Known As

JEN-nHJEB-IJEB-nHepidermolysis bullosa Junctionalis, Disentis typeepidermolysis bullosa Junctionalis, non-Herlitz typeepidermolysis bullosa Junctionalis, progressiveepidermolysis bullosa Junctionalis, severe Nonlethalepidermolysis bullosa, generalised atrophic benignepidermolysis bullosa, generalized atrophic benignepidermolysis bullosa, junctional, Localisata variantepidermolysis bullosa, junctional, non-Herlitz typejunctional epidermolysis bullosa inversa

Definition

Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.