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A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease.

Authors :
Esfandiari, Negar
Vandyke, Santana
Porter, Hannah J.
Shea, Katelyn
Morley, Keith
Greene, Laura
Source :
Pediatric Dermatology. Mar2024, Vol. 41 Issue 2, p298-301. 4p.
Publication Year :
2024

Abstract

Mevalonate kinase deficiency is a group of rare metabolic autoinflammatory disorders that present with recurrent fevers, abdominal pain, arthralgias, adenopathy, and a variety of cutaneous manifestations. The skin findings may mimic cellulitis, erythema elevatum diutinum, IgA vasculitis, and Sweet syndrome, and there is often a morbilliform or urticarial rash and aphthous stomatitis. Mevalonate kinase deficiency is one of the identified monogenic variants that can cause very early onset inflammatory bowel disease (IBD). We present a rare case of a patient with mevalonate kinase deficiency, neonatal Sweet syndrome, and infantileā€onset IBD, who has been successfully treated with canakinumab therapy. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
07368046
Volume :
41
Issue :
2
Database :
Academic Search Index
Journal :
Pediatric Dermatology
Publication Type :
Academic Journal
Accession number :
176104429
Full Text :
https://doi.org/10.1111/pde.15432