PAPA-like syndrome with heterozygous mutation in the MEFV gene

C O'Connor; L Kiely; C Heffron; J Ryan; M Bennett

doi:10.1111/ced.15027

PAPA-like syndrome with heterozygous mutation in the MEFV gene

Clin Exp Dermatol. 2022 Mar;47(3):642-645. doi: 10.1111/ced.15027. Epub 2021 Dec 9.

Authors

C O'Connor^{1

2}, L Kiely¹, C Heffron³, J Ryan⁴, M Bennett¹

Affiliations

¹ Department of Dermatology, South Infirmary Victoria University Hospital, Cork, Ireland.
² Department of Paediatrics and Child Health, University College Cork, Cork, Ireland.
³ Pathology, Cork University Hospital, Cork, Ireland.
⁴ Rheumatology, Cork University Hospital, Cork, Ireland.

PMID: 34882829
DOI: 10.1111/ced.15027

Abstract

A patient presented with a history of recurrent pyoderma gangrenosum, arthritis and extensive acne, prompting a genetic workup for PAPA syndrome. An MEFV mutation was identified and a change in therapeutic strategy from anakinra to colchicine was successful. Click https://www.wileyhealthlearning.com/#/online-courses/b52447c0-1d37-472d-b0c0-7817352d6f68 for the corresponding questions to this CME article.

Publication types

Case Reports

MeSH terms

Acne Vulgaris / diagnosis*
Acne Vulgaris / drug therapy
Acne Vulgaris / genetics*
Acne Vulgaris / pathology
Adult
Arthritis, Infectious / diagnosis*
Arthritis, Infectious / drug therapy
Arthritis, Infectious / genetics*
Arthritis, Infectious / pathology
Cicatrix / pathology
Colchicine / therapeutic use
Humans
Male
Muscular Atrophy / pathology
Mutation*
Pyoderma Gangrenosum / diagnosis*
Pyoderma Gangrenosum / drug therapy
Pyoderma Gangrenosum / genetics*
Pyoderma Gangrenosum / pathology
Pyrin / genetics*
Recurrence
Syndrome
Tubulin Modulators / therapeutic use

Substances

MEFV protein, human
Pyrin
Tubulin Modulators
Colchicine

Supplementary concepts

Pyogenic arthritis, pyoderma gangrenosum, and acne