title: A case of periodic-fever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities.
abstract: A 24-year-old Japanese woman had been suffering from a periodic fever since 10 months of age. She developed deformities in her fingers, with severe atrophy of subcutaneous adipose tissue, myositis, and frostbitten hands. She showed elevated C-reactive protein, creatine kinase, and gamma-globulin. She was also positive for antinuclear, anti-DNA, anti-SS-B, and anti-U1RNP antibodies. Her myositis was similar to amyopathic dermatomyositis rather than juvenile dermatomyositis. Although consanguineous marriage of her parents and early onset of disease suggested her disease as a hereditary disorder with periodic fever, her clinical feature and laboratory tests were unlike any known periodic fever syndromes. Her disease was regarded as a unique type of periodic-fever-syndrome-like disorder with autoimmune abnormalities.
authors.affiliation: Department of Clinical Pathology and Immunology, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Shimpei
authors.initials: S
authors.lastname: Kasagi
authors.forename: Seiji
authors.initials: S
authors.lastname: Kawano
authors.forename: Takashi
authors.initials: T
authors.lastname: Nakazawa
authors.forename: Hirotoshi
authors.initials: H
authors.lastname: Sugino
authors.forename: Masahiro
authors.initials: M
authors.lastname: Koshiba
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Ichinose
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Ida
authors.forename: Katsumi
authors.initials: K
authors.lastname: Eguchi
authors.forename: Shunichi
authors.initials: S
authors.lastname: Kumagai
mesh_terms: D000328:Adult; D000974:Antibodies, Antinuclear / Q000097:blood; D001327:Autoimmune Diseases / Q000276:immunology / Q000473:pathology*; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000175:diagnosis; D005260:Female; D006801:Humans; D008060:Lipodystrophy / Q000276:immunology / Q000473:pathology*; D009220:Myositis / Q000276:immunology / Q000473:pathology*; D010507:Periodicity; D013577:Syndrome; D014409:Tumor Necrosis Factor-alpha / Q000097:blood
chemical_list: D000974:Antibodies, Antinuclear; D014409:Tumor Necrosis Factor-alpha