{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T00:01:14Z","timestamp":1756166474332,"version":"3.44.0"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2025,8,25]],"date-time":"2025-08-25T00:00:00Z","timestamp":1756080000000},"content-version":"vor","delay-in-days":24,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Sneddon syndrome (SS) is a rare neurocutaneous disorder consisting of livedo racemosa (LR) and cerebrovascular disease with an incidence of 4 per 1\u2009000\u2009000 annually. It may be idiopathic or associated with autoimmune or genetic factors, including deficiency of adenosine deaminase 2\u2002(DADA2). We describe a 17-month-old girl with recurrent fevers, hepatosplenomegaly, LR, and progressive\u2002liver fibrosis. A pathogenic ADA2 mutation and LDLR mutation associated with familial hypercholesterolemia (FH) were detected\u2002by genetic testing. Despite corticosteroids, etanercept, and immunosuppressants, she continued to deteriorate and developed\u2002portal vein thrombosis and increasing hepatic dysfunction. DADA2 is well described to cause systemic vasculopathy, but its association with liver fibrosis is still unclear. Our case highlights a potential association between DADA2 and LDLR mutation leading to hepatic injury, extending\u2002the broad spectrum of SS-related complications. Further research is needed to understand the role of these genes and their mutations in the systemic and hepatic manifestations\u2002of SS.<\/jats:p>","DOI":"10.1093\/omcr\/omaf153","type":"journal-article","created":{"date-parts":[[2025,8,25]],"date-time":"2025-08-25T06:15:30Z","timestamp":1756102530000},"source":"Crossref","is-referenced-by-count":0,"title":["Pediatric Sneddon syndrome presenting with early-onset liver fibrosis: a rare case report"],"prefix":"10.1093","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-9410-3499","authenticated-orcid":false,"given":"Qutaiba N","family":"Awad","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Palestine Polytechnic University , Wadi Al-Hariyah Street, Hebron 9020000 ,","place":["Palestine"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-9578-1105","authenticated-orcid":false,"given":"Taha Z","family":"Makhlouf","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Palestine Polytechnic University , Wadi Al-Hariyah Street, Hebron 9020000 ,","place":["Palestine"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5897-9185","authenticated-orcid":false,"given":"Mohammad F","family":"Zhour","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Palestine Polytechnic University , Wadi Al-Hariyah Street, Hebron 9020000 ,","place":["Palestine"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9656-2961","authenticated-orcid":false,"given":"Sami","family":"Bannoura","sequence":"additional","affiliation":[{"name":"Department of pathology, Makassed Hospital , Ruba el-Adawiya Street, Jerusalem 91000 ,","place":["Palestine"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wesam","family":"Abu hussein","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Palestine Polytechnic University , Wadi Al-Hariyah Street, Hebron 9020000 ,","place":["Palestine"]},{"name":"Department of Pediatrics, Mohammad Ali Al-Mohtaseb Governmental Hospital , Al-Sahla Street, Hebron 9020000 ,","place":["Palestine"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,8,25]]},"reference":[{"key":"2025082502152944600_ref1","doi-asserted-by":"publisher","first-page":"209","DOI":"10.5414\/CN109748","article-title":"Mechanisms of kidney disease in Sneddon\u2019s syndrome: case report and literature review","volume":"93","author":"Ghislain","year":"2020","journal-title":"Clin Nephrol"},{"key":"2025082502152944600_ref2","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1186\/s13023-014-0215-4","article-title":"Sneddon\u2019s syndrome: a comprehensive review of the 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