Case Report

A case of periodic-fever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities

Authors

Shimpei Kasagi¹, Seiji Kawano¹, Takashi Nakazawa¹, Hirotoshi Sugino², Masahiro Koshiba³, Kunihiro Ichinose⁴, Hiroaki Ida⁴, Katsumi Eguchi⁴ and Shunichi Kumagai¹

1. Department of Clinical Pathology and Immunology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan
2. Sugino Syonika Clinic, 2-8-26 Kameyama, Asakita-Ku, Hiroshima 731-0231, Japan
3. Department of Clinical Laboratory, Hyogo Medical College, 1-1 Mukogawa-cho, Nishinomiya 663-8501, Japan
4. First Department of Internal Medicine, Nagasaki University Hospital of Medicine and Dentistry, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki 852-8501, Japan

Received:

9 March 2007

Accepted:

14 November 2007

Published online:

14 March 2008

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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 γ-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.

Keywords

Periodic fever syndrome - Myositis - Lipodystrophy - TNF-alpha