Skip to main content

Table 5 Major EB subtypes and their targeted proteins (per the 2008 international consensus report [3])

From: Inherited epidermolysis bullosa

Major EB Type Major EB Subtypes Targeted Protein(s)
EB simplex (EBS) suprabasal subtypes  
     lethal acantholytic EBS desmoplakin
     plakophilin-1 deficiency plakophilin-1
     EBS superficialis (EBSS) ?
  basal subtypes  
     EBS, localized (EBS-loc) K5, K14
     EBS, Dowling-Meara (EBS-DM) K5, K14
     EBS, other generalized (EBS,-gen nDM) K5, K14
     EBS with mottled pigmentation (EBS-MP) K5
     EBS with muscular dystrophy (EBS-MD) plectin
     EBS with pyloric atresia (EBS-PA) plectin; α6β4 integrin
     EBS, autosomal recessive (EBS-AR) K14
     EBS, Ogna (EBS-Og) plectin
     EBS, migratory circinate (EBS-migr) K5
Junctional EB (JEB) JEB, Herlitz (JEB-H) laminin-332
  JEB, generalized non-Herlitz (JEB-nH gen) laminin-332; type XVII collagen
  JEB, localized non-Herlitz (JEB-nH loc) type XVII collagen
  JEB with pyloric atresia (JEB-PA) α6β4 integrin
  JEB, inversa (JEB-I) laminin-332
  JEB, late onset (JEB-lo) ?
  LOC syndrome laminin-332 α3 chain
Dominant dystrophic EB (DDEB) DDEB, generalized (DDEB-gen) type VII collagen
  DDEB, acral (DDEB-ac) type VII collagen
  DDEB, pretibial (DDEB-Pt) type VII collagen
  DDEB, pruriginosa (DDEB-Pr) type VII collagen
  DDEB, nails only (DDEB-na) type VII collagen
  DDEB, bullous dermolysis of newborn (DDEB-BDN) type VII collagen
Recessive dystrophic EB (RDEB) RDEB, severe generalized (RDEB-sev gen) type VII collagen
  RDEB, generalized other (RDEB, generalized mitis (RDEB-O) type VII collagen
  RDEB, inversa (RDEB-I) type VII collagen
  RDEB, pretibial (RDEB-Pt) type VII collagen
  RDEB, pruriginosa (RDEB-Pr) type VII collagen
  RDEB, centripetalis (RDEB-Ce) type VII collagen
  RDEB, bullous dermolysis of newborn (RDEB-BDN) type VII collagen
Kindler syndrome   kindlin-1
  1. Modified from Fine JD et al (reference [3])