By Disease Name > Epidermolysis Bullosa > Junctional Epidermolysis Bullosa

Junctional Epidermolysis Bullosa

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autosomal recessive
blister formation within the lamina lucida (laminin 5 defect)

 

Lethal junctional eb:  (Herlitz)

generalized blistering and erosions at birth;  most severe form of JEB
pathognomonic clinical finding = thickened areas of exuberant granulation tissue (especially around mouth and nostrils, posterior neck)
nails are involved and eventually shed
oral mucosa often involved;  any epithelial lined organ may be affected (mouth, esophagus, small intestine)
eroded areas slow to heal;   atrophic scars but no milia
many infants die early with overwhelming infection