NLRP1-associated autoinflammatory disease with epithelial dyskeratosis

Lemus-Arteaga K.; Ballona-Chambergo R.; Córdova-Calderón W.; Ventura-León A.; Torrelo A.; Velásquez-Valderrama F. · Pediatric Dermatology (2024) · DOI: 10.1111/pde.15464

Resumen

Several gain-of-function variants in NLRP1 cause a distinctive autoinflammatory disease reported under different names featuring mainly skin and mucosal involvement and variable systemic signs. Here, we report a new case of NLRP1-associated autoinflammatory disease in a 6-year-old Peruvian girl, who presented with confluent hyperkeratotic plaques that drained purulent material with subsequent scarring. A c.3641C > G (p. Pro1214Arg) variant that has been previously been reported was found in NLRP1 and was not present in either parent. The term NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED) is proposed to encompass all reported cases, which have received different nomenclature so far.