Case Report: Generalised panniculitis as a post-COVID-19 presentation in Aicardi-Goutières Syndrome treated with ruxolitinib

Pararajasingam, Abirami, Bradley, Rachel E., Evans, Jennifer, Lowe, Ashima, Goodwin, Richard and Jolles, Stephen 2022. Case Report: Generalised panniculitis as a post-COVID-19 presentation in Aicardi-Goutières Syndrome treated with ruxolitinib. Frontiers in Pediatrics 10 , 837568. 10.3389/fped.2022.837568

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Abstract

Aicardi-Goutières syndrome (AGS) is a rare hereditary early-onset encephalopathy. The syndrome was first described in 1984, and is characterised by upregulation of the type I interferon (IFN) pathway, which is involved in the host immune response against viral infections, including SARS-CoV-2. Whilst defects in type I IFN pathways have been described in association with severe coronavirus disease 2019 (COVID-19), less is known about the outcomes of upregulation. We describe an unusual case of generalised panniculitis as a post-COVID-19 phenomenon in a child with AGS. Our patient was initially managed with systemic steroid therapy, but due to relapse of symptoms on weaning, an alternative therapy was sought. In this case, a novel use of ruxolitinib, a JAK inhibitor, has resulted in lasting remission without complications. We discuss the probable protective role of IFN upregulation following COVID-19 infection in AGS and possible immunological mechanisms driving the panniculitis and therapeutic response in our case.

Item Type:	Article
Date Type:	Published Online
Status:	Published
Schools:	Medicine
Additional Information:	This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY).
Publisher:	Frontiers Media
ISSN:	2296-2360
Funders:	N/A
Date of First Compliant Deposit:	17 May 2022
Date of Acceptance:	1 March 2022
Last Modified:	23 May 2023 14:28
URI:	https://orca.cardiff.ac.uk/id/eprint/149759

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