تقرير
A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease.
| العنوان: | A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease. |
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| المؤلفون: | Esfandiari N; Larner College of Medicine at The University of Vermont, Burlington, Vermont, USA., Vandyke S; Division of Dermatology, The University of Vermont Medical Center, Burlington, Vermont, USA., Porter HJ; Division of Dermatology, The University of Vermont Medical Center, Burlington, Vermont, USA., Shea K; Four Seasons Dermatology, Colchester, Vermont, USA., Morley K; Division of Dermatology, The University of Vermont Medical Center, Burlington, Vermont, USA., Greene L; Department of Pathology and Laboratory Medicine, The University of Vermont Medical Center, Burlington, Vermont, USA. |
| المصدر: | Pediatric dermatology [Pediatr Dermatol] 2024 Mar-Apr; Vol. 41 (2), pp. 298-301. Date of Electronic Publication: 2023 Oct 08. |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2010->: Hoboken, NJ : Wiley Original Publication: [Boston, MA] : Blackwell Scientific Publications, [1983- |
| مواضيع طبية MeSH: | Sweet Syndrome* , Mevalonate Kinase Deficiency*/complications , Mevalonate Kinase Deficiency*/diagnosis , Mevalonate Kinase Deficiency*/drug therapy , Vasculitis, Leukocytoclastic, Cutaneous* , Inflammatory Bowel Diseases*/complications , Inflammatory Bowel Diseases*/diagnosis , Inflammatory Bowel Diseases*/drug therapy, Infant, Newborn ; Humans |
| مستخلص: | 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. (© 2023 Wiley Periodicals LLC.) |
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| فهرسة مساهمة: | Keywords: Sweet syndrome; infantile onset; inflammatory bowel disease; mevalonate kinase deficiency |
| تواريخ الأحداث: | Date Created: 20231009 Date Completed: 20240319 Latest Revision: 20240319 |
| رمز التحديث: | 20240319 |
| DOI: | 10.1111/pde.15432 |
| PMID: | 37807602 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1525-1470 |
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| DOI: | 10.1111/pde.15432 |