Features associated with Juvenile Epidermolysis Bullosa (JEB):
(1) blister located in the lamina lucida on electron microscopy
(2) associated with skin atrophy and enamel hypoplasia
(3) mutation in one of the following genes for:
(3a) laminin 5 alpha-3, beta-3 or gamma-2 chains
(3b) integrin alpha-6 or beta-4 subunit
(3c) for bullous pemphigoid antigen
Features associated with dominant dystrophic epidermolysis bullosa (DDEB):
(1) blister located with the dermis (intradermal) on electron microscopy
(2) affects both parents and children
(3) mutation in type VII collagen gene (COL7A1)
Features associated with recessive dystrophic epidermolysis bullosa (RDEB):
(1) blister located with the dermis (intradermal) on electron microscopy
(2) in an isolated child or also in siblings
(3) associated with skin scarring and severe syndactyly
(4) mutation in type VII collagen gene (COL7A1)
