Generalized atrophic benign form of junctional epidermolysis bullosa.
There are at least six variants of junctional epidermolysis bullosa (JEB). About 20 cases of the generalized atrophic benign variant of JEB (GABEB) have been previously reported. We present an additional case of GABEB, occurring in a 14-year-old girl. Generalized cutaneous blisters occurred since birth and healed without severe scarring or milia, but with slight atrophy. In addition, mucous membrane involvement and hair, nail and tooth abnormalities were found. Electron microscopic examination showed a cleavage within the lamina lucida and the presence of numerically and structurally abnormal hemidesmosomes.
D000293:Adolescent; D001284:Atrophy; D001485:Basement Membrane / Q000648:ultrastructure; D001768:Blister / Q000473:pathology; D002908:Chronic Disease; D003896:Desmosomes / Q000648:ultrastructure; D004820:Epidermolysis Bullosa / Q000151:congenital / Q000473:pathology*; D005260:Female; D006801:Humans; D007633:Keratins; D012867:Skin / Q000648:ultrastructure
D007633:Keratins