학술논문

Acute generalized exanthematous pustulosis and polyarthritis associated with a novel CARD14 mutation.
Document Type
Article
Source
Australasian Journal of Dermatology. Feb2018, Vol. 59 Issue 1, pe70-e73. 4p. 2 Color Photographs, 1 Chart.
Subject
*DERMATOLOGY
*PATHOLOGICAL physiology
*PITYRIASIS rubra
*ACUTE phase proteins
*PROTEINS
Language
ISSN
0004-8380
Abstract
Abstract: 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. [ABSTRACT FROM AUTHOR]