Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia.
Masaaki
M
Yamamoto
Tatsuya
T
Tsuda
Yoshinaga
Y
Otaki
Takeshi
T
Nakanishi
Kiyofumi
K
Yamanishi
D002117:Calcitriol / Q000031:analogs & derivatives / Q000627:therapeutic use; D003879:Dermatologic Agents / Q000627:therapeutic use; D004100:Dihydroxycholecalciferols / Q000627:therapeutic use; D005050:Etretinate / Q000627:therapeutic use; D006801:Humans; D006934:Hypercalcemia / Q000139:chemically induced / Q000175:diagnosis*; D017488:Hyperkeratosis, Epidermolytic / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D053550:Keratin-10 / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D055815:Young Adult
D003879:Dermatologic Agents; D004100:Dihydroxycholecalciferols; C507493:KRT10 protein, human; D053550:Keratin-10; C023850:1 alpha,24-dihydroxyvitamin D3; D005050:Etretinate; D002117:Calcitriol; C051883:maxacalcitol