Acute generalized exanthematous pustulosis and polyarthritis associated with a novel CARD14 mutation.
- Sebastian Podlipnik,
- Raul Castellanos-Moreira,
- Helena Florez-Enrich,
- Juan Ignacio Arostegui,
- José Manuel Mascaró
Australas J Dermatol 2017 Aug 3. Epub 2017 Aug 3.
Department of Dermatology, Hospital Clinic, Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
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. Read More