| Table 1-4 Diseases Associated with Epidermal/Dermal Proteins |
| Protein | | Associated Disease |
| Plectin | | EBS with muscular dystrophy, paraneoplastic pemphigus (PNP) |
| α6β4 integrin | | JEB with pyloric atresia, cicatricial pemphigoid (CP) - ocular |
| BPAG1 | | Bullous pemphigoid (BP), PNP |
| BPAG2 | | NC16A → BP, linear IgA bullous dermatosis (LABD), pemphigoid gestationis Carboxy terminus → CP |
| Laminin-332 (5) | | JEB (Herlitz), CP (↑ risk of cancer) |
| Type VII collagen | | Dystrophic EB (mutated), EBA, bullous SLE |
| Plakoglobin | | Naxos disease |
| Desmocollin 1 | | Subcorneal pustular dermatosis (type of IgA pemphigus) |
| Desmoglein 1 | | Striate PPK, pemphigus foliaceous, pemphigus vulgaris (mucocutaneous), bullous impetigo, staphylococcal scalded skin syndrome (SSSS), PNP |
| Desmoglein 3 | | Pemphigus vulgaris (mucosal-dominant and mucocutaneous), PNP |
| Desmoglein 4 | | Monilethrix (autosomal recessive) |
| Desmoplakin 1/2 | | Carvajal syndrome, striate PPK, skin fragility/woolly hair syndrome, PNP |
| Plakophilin | | Ectodermal dysplasia/skin fragility syndrome |
| Connexin 26 | | KID syndrome, Vohwinkel syndrome, PPK with deafness |
| Connexin 30 | | Hidrotic ectodermal dysplasia (HED) |
| Connexin 30.3/31 | | Erythrokeratoderma variabilis (EKV) |
| β-catenin | | Pilomatricoma (multiple may be associated with myotonic dystrophy) |
| Loricrin | | Vohwinkel (variant), progressive symmetric erythrokeratoderma |
| Filaggrin/KHG | | Atopic dermatitis, ichthyosis vulgaris |
| Transglutaminase | | TG3 → dermatitis herpetiformis, TG1 → lamellar ichthyosis |
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