Svensk definition
En form av epidermolysis bullosa som uppkommer redan vid födseln eller under neonatalperioden och som har en autosomal, recessiv ärftlighet. Typiskt är utbredd blåsbildning, omfattande denudation och spaltning mellan cellernas plasmamembran och basalmembranet.
Engelsk definition
Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Epidermolysis Bullosa, Generalized Atrophic Benign — Epidermolysis Bullosa Junctionalis, Severe Nonlethal — Junctional Epidermolysis Bullosa — Epidermolysis Bullosa Junctionalis, Disentis Type — Epidermolysis Bullosa Letalis — Bullosa Letali, Epidermolysis — Bullosa Letalis, Epidermolysis — Epidermolysis Bullosa Letali — Letali, Epidermolysis Bullosa — Letalis, Epidermolysis Bullosa — Herlitz Disease — Disease, Herlitz — Lethal Junctional Epidermolysis Bullosa — Herlitz-Pearson-Type Epidermolysis Bullosa — Bullosa, Herlitz-Pearson-Type Epidermolysis — Epidermolysis Bullosa, Herlitz-Pearson-Type — Epidermolysis Bullosa, Junctional, Herlitz Type — Herlitz-Pearson Type Epidermolysis Bullosa — Herlitz Pearson Type Epidermolysis Bullosa — Epidermolysis Bullosa Junctionalis, Herlitz Type — Herlitz's Disease — Disease, Herlitz's — Herlitzs Disease — Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type — Epidermolysis Bullosa Progressiva — Epidermolysis Bullosa Junctionalis, Progressive