A case of neonatal sweet syndrome associated with mevalonate kinase deficiency

Autor: Margaret Irwin, Veeraya K. Tanawattanacharoen, Amy Turner, Mary Beth F. Son, Rebecca C. Hale, Craig D. Platt, Juan Putra, Birgitta A.R. Schmidt, Mollie G. Wasserman
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-5 (2023)
Druh dokumentu: article
ISSN: 1546-0096
DOI: 10.1186/s12969-023-00887-8
Popis: Abstract Background Sweet syndrome (SS), also known as acute febrile neutrophilic dermatosis, is an immunologic syndrome characterized by widespread neutrophilic infiltration. Histiocytoid Sweet syndrome (H-SS) is a histopathologic variant of SS. While SS most commonly occurs in adults, this case report discusses an infant patient who presented with H-SS. Case presentation Through a multidisciplinary approach, this patient was also found to have very early onset inflammatory bowel disease (VEO-IBD) and Mevalonate kinase-associated disease (MKAD). While prior case studies have characterized an association between VEO-IBD and MKAD, there is no literature describing the association of all three diagnoses this case: H-SS, VEO-IBD and MKAD. Initiation of canakinumab in this patient resulted in successful control of the disease. Conclusions This case highlights the importance of a multidisciplinary approach to rare diagnoses, and collaboration during cases with significant diagnostic uncertainty.
Databáze: Directory of Open Access Journals
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