Epidermolysis Bullosa, Junctional

Epidermolysis bullosa lethalis

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