| Cockayne syndrome | XPB DNA helicase |
| Darier’s disease | SERCA2 gene (encodes a Ca2+-transporting ATPase) |
| Fabry’s disease | alpha-galactosidase |
| incontinentia pigmenti | NEMO (NF kappa ß essential modulator) |
| Marfan’s syndrome | fibrillin |
| Papillon-Lefevre | cathepsin |
| pilomatricomas | beta-catenin mutations |
| Sjogren-Larson sx | fatty alcohol oxidoreductase deficiency |
| X-linked ichthyosis | steroid-sulfatase |
| lamellar ichthyosis | transglutaminase |
| ichthyosis vulgaris | profilaggrin |
| epidermolytic hyperkeratosis | keratins1,10 |
| pachyonychia congenita type I | keratin 6 or 16 |
| pachyonychia congenita type II | keratin 17 |
| Vorner variant keratoderma | keratin 9 |
| ichthyosis bullosa of Siemens | keratin 2e |
| white sponge nevus | keratin 4,13 |
| • | GABEB collagen XVII (BP 180) |
| • | EB with pyloric atresia alpha4beta6 integrin |
| • | lethal EB (Herlitz) laminin 5 |
| dystrophic EB | type VII collagen |
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