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NLRP1-associated autoinflammatory disease with epithelial dyskeratosis
Kevin Lemus-Arteaga1,2,3, Rosalía Ballona-Chambergo1,4, Wilmer Córdova-Calderón1,5
1Pediatric dermatology, Instituto Nacional de Salud del Niño-Breña, Lima, Peru.
Abstract:
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.
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