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 | Â |
|  |    lethal acantholytic EBS | desmoplakin |
|  |    plakophilin-1 deficiency | plakophilin-1 |
|  |    EBS superficialis (EBSS) | ? |
| Â | basal subtypes | Â |
|  |    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 |
| Â | JEB, generalized non-Herlitz (JEB-nH gen) | laminin-332; type XVII collagen |
| Â | JEB, localized non-Herlitz (JEB-nH loc) | type XVII collagen |
|  | JEB with pyloric atresia (JEB-PA) | α6β4 integrin |
| Â | JEB, inversa (JEB-I) | laminin-332 |
| Â | JEB, late onset (JEB-lo) | ? |
|  | LOC syndrome | laminin-332 α3 chain |
Dominant dystrophic EB (DDEB) | DDEB, generalized (DDEB-gen) | type VII collagen |
| Â | DDEB, acral (DDEB-ac) | type VII collagen |
| Â | DDEB, pretibial (DDEB-Pt) | type VII collagen |
| Â | DDEB, pruriginosa (DDEB-Pr) | type VII collagen |
| Â | DDEB, nails only (DDEB-na) | type VII collagen |
| Â | DDEB, bullous dermolysis of newborn (DDEB-BDN) | type VII collagen |
Recessive dystrophic EB (RDEB) | RDEB, severe generalized (RDEB-sev gen) | type VII collagen |
| Â | RDEB, generalized other (RDEB, generalized mitis (RDEB-O) | type VII collagen |
| Â | RDEB, inversa (RDEB-I) | type VII collagen |
| Â | RDEB, pretibial (RDEB-Pt) | type VII collagen |
| Â | RDEB, pruriginosa (RDEB-Pr) | type VII collagen |
| Â | RDEB, centripetalis (RDEB-Ce) | type VII collagen |
| Â | RDEB, bullous dermolysis of newborn (RDEB-BDN) | type VII collagen |
Kindler syndrome | Â | kindlin-1 |