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Acute generalized exanthematous pustulosis and polyarthritis associated with a novel CARD14 mutationPodlipnik, Sebastian; Castellanos‐Moreira, Raul; Florez‐Enrich, Helena; Arostegui, Juan Ignacio; Mascaró, José Manuel
Australasian journal of dermatology, February 2018, 2018-Feb, 2018-02-00, 20180201, Letnik: 59, Številka: 1Journal Article
Acute generalised exanthematous pustulosis (AGEP) is a rare toxicoderma characterised by an acute onset rash, with many sterile pustules on the surface, high fever and increased acute phase reactants. We report the case of a patient who presented to the dermatology department with an AGEP and polyarthritis, in which a novel CARD14 mutation was identified. The pathophysiological mechanism of AGEP remains unclear, although mutations in the IL36RN gene have been identified in a small subset of AGEP patients. Similarly, mutations in the CARD14 gene have been linked to pustular types of psoriasis and familiar cases of pityriasis rubra pilaris; however, there are no reports associating mutations in the CARD14 gene with AGEP.
