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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