A case of periodic-fever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities.
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.
Kasagi
Shimpei
S
Department of Clinical Pathology and Immunology, Kobe University Graduate School of Medicine, Kobe, Japan.
Kawano
Seiji
S
Nakazawa
Takashi
T
Sugino
Hirotoshi
H
Koshiba
Masahiro
M
Ichinose
Kunihiro
K
Ida
Hiroaki
H
Eguchi
Katsumi
K
Kumagai
Shunichi
S
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
D000974:Antibodies, Antinuclear; D014409:Tumor Necrosis Factor-alpha