Article
Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations.
JAMA dermatology - 1 Jan 2017
Takeichi Takuya, Sugiura Kazumitsu, Nomura Toshifumi, Sakamoto Taiko, Ogawa Yasushi, Oiso Naoki, Futei Yuko, Fujisaki Aki, Koizumi Akiko, Aoyama Yumi, Nakajima Kimiko, Hatano Yutaka, Hayashi Kei, Ishida-Yamamoto Akemi, Fujiwara Sakuhei, Sano Shigetoshi, Iwatsuki Keiji, Kawada Akira, Suga Yasushi, Shimizu Hiroshi, McGrath John A, Akiyama Masashi
Abstract excerpt
Importance: We found CARD14 mutations (2 de novo novel mutations and another previously reported mutation) in 3 of 3 patients with pityriasis rubra pilaris (PRP) type V, but not in patients with PRP of other types. Our findings, combined with the published literature, suggest that type V PRP, both familial and sporadic, can be caused by CARD14 mutations. Detailed clinical observation revealed that all 3 patients...
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