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