title: Coexistent tumor necrosis factor receptor-associated periodic fever syndrome and Ehlers-Danlos syndrome.
abstract: 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.
authors.forename: Qingping
authors.initials: Q
authors.lastname: Yao
authors.forename: Lan
authors.initials: L
authors.lastname: Zhou
authors.forename: Kenneth J
authors.initials: KJ
authors.lastname: Tomecki
mesh_terms: D000328:Adult; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005334:Fever / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D010507:Periodicity; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D013577:Syndrome
chemical_list: D047888:Receptors, Tumor Necrosis Factor, Type I