| 概要 |
Multiple self-healing palmoplantar carcinoma (MSPC) is a rare, autosomal dominant genetic condition which primarily affects epithelium lacking hair follicles, such as the palms and soles, leading to multiple keratoacanthomas. It has been reported that gain-of-function mutations in the NLRP1 gene cause MSPC. NLRP1 is the most prominent inflammasome sensor in human skin.
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| 階層分類 |
ICD-11 による疾患分類 [BR:jp08403]
02 腫瘍
悪性腫瘍, ただしリンパ, 造血, 中枢神経系または関連組織の原発腫瘍を除く
悪性腫瘍, 原発性と確定または推定されるもの, 明示された部位のもの, ただしリンパ, 造血, 中枢神経系, 関連組織を除く
皮膚の悪性腫瘍
2C31 皮膚の扁平上皮癌
H03023 多発性自己治癒性掌蹠癌
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| 著者 |
Zhong FL, Mamai O, Sborgi L, Boussofara L, Hopkins R, Robinson K, Szeverenyi I, Takeichi T, Balaji R, Lau A, Tye H, Roy K, Bonnard C, Ahl PJ, Jones LA, Baker PJ, Lacina L, Otsuka A, Fournie PR, Malecaze F, Lane EB, Akiyama M, Kabashima K, Connolly JE, Masters SL, Soler VJ, Omar SS, McGrath JA, Nedelcu R, Gribaa M, Denguezli M, Saad A, Hiller S, Reversade B |
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