Rheumatol Int. 2012 Jul;32(7):2223-5. doi: 10.1007/s00296-011-2015-7. Epub 2011 Jul 23.
A 32-year-old Caucasian woman had periodic fevers, skin disease, polyarthralgia and hypermobile joints that were consistent with tumor necrosis factor receptor-associated periodic fever syndrome confirmed with a finding of R92Q missense mutation of the TNFRSFA1 gene with Ehlers-Danlos hypermobility type syndrome. They are both autosomal dominant disorders, and their coexistence suggests that they could share some phenotypic features that may require special consideration in management. Conceivably, they could share common gene mutations although no such data are available.
一位 32 岁的白种女性周期性发热、皮肤病变、多发性关节炎和关节活动过度，这些症状符合肿瘤坏死因子受体相关周期性发热综合征，通过检测 TNFRSFA1 基因的 R92Q 错义突变证实了这一诊断，同时她还患有埃勒斯-当洛斯综合征（一种结缔组织疾病）。这两种疾病均为常染色体显性遗传病，同时存在提示它们可能具有一些共同的表型特征，这在管理上需要特别注意。可以推测，它们可能存在共同的基因突变，但目前尚无相关数据。
