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- Title
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
- 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 infantile‐onset IBD, who has been successfully treated with canakinumab therapy.
- Subjects
MEVALONATE kinase; INFLAMMATORY bowel diseases; SWEET'S syndrome; CUTANEOUS manifestations of general diseases; CELLULITIS
- Publication
Pediatric Dermatology, 2024, Vol 41, Issue 2, p298
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/pde.15432