| Description |
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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| Brite |
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms of skin
2C31 Squamous cell carcinoma of skin
H03023 Multiple self-healing palmoplantar carcinoma
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| Authors |
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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