Larner College of Medicine at The University of Vermont, Burlington, Vermont, USA.
Division of Dermatology, The University of Vermont Medical Center, Burlington, Vermont, USA.
Pediatr Dermatol. 2024 Mar-Apr;41(2):298-301. doi: 10.1111/pde.15432. Epub 2023 Oct 8.
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.
甲羟戊酸激酶缺乏症是一组罕见的代谢性自身炎症性疾病,表现为反复发作的发热、腹痛、关节痛、淋巴结病和多种皮肤表现。皮肤表现可能类似于蜂窝织炎、持久性隆起性红斑、IgA 血管炎和Sweet 综合征,常有麻疹样或荨麻疹样皮疹和口疮性口炎。甲羟戊酸激酶缺乏症是一种已确定的单基因变异,可以导致非常早发性炎症性肠病(IBD)。我们报告了一例罕见的甲羟戊酸激酶缺乏症、新生儿 Sweet 综合征和婴儿期 IBD 患者,该患者接受卡那单抗治疗后成功缓解。