Podlipnik Sebastian, Castellanos-Moreira Raul, Florez-Enrich Helena, Arostegui Juan Ignacio, Mascaró José Manuel
Department of Dermatology, Hospital Clinic, Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Department of Rheumatology, Hospital Clinic, Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Australas J Dermatol. 2018 Feb;59(1):e70-e73. doi: 10.1111/ajd.12669. Epub 2017 Aug 3.
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.
急性泛发性脓疱性皮病（AGEP）是一种罕见的中毒性皮肤病，其特征为急性起病的皮疹，表面有许多无菌脓疱、高热及急性期反应物升高。我们报告了1例因AGEP和多关节炎就诊于皮肤科的患者，该患者中鉴定出一种新的CARD14突变。尽管在一小部分AGEP患者中已鉴定出IL36RN基因突变，但AGEP的病理生理机制仍不清楚。同样，CARD14基因突变与脓疱型银屑病及家族性毛发红糠疹病例有关；然而，尚无关于CARD14基因突变与AGEP相关的报道。
