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.
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
タイトル
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
