Hereditary Lipo-Muscular Atrophy with Joint Contracture, Skin Eruptions and Hyper-.GAMMA.-Globulinemia: a New Syndrome.
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- TANAKA Masami
- the Department of Neurology, Brain Research Institute, Niigata University
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- MIYATANI Nobuyuki
- the Department of Neurology, Brain Research Institute, Niigata University
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- YAMADA Shigeru
- the Department of Neurology, Brain Research Institute, Niigata University
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- MIYASHITA Kotaro
- the Department of Neurology, Brain Research Institute, Niigata University
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- TOYOSHIMA Itaru
- the Department of Neurology, Brain Research Institute, Niigata University
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- SAKUMA Kaori
- the Department of Neurology, Brain Research Institute, Niigata University
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- TANAKA Keiko
- the Department of Neurology, Brain Research Institute, Niigata University
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- YUASA Tatsuhiko
- the Department of Neurology, Brain Research Institute, Niigata University
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- MIYATAKE Tadashi
- the Department of Neurology, Brain Research Institute, Niigata University
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- TSUBAKI Tadao
- the Department of Neurology, Tokyo Metropolitan Neurological Hospital
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抄録
We previously reported two siblings with decreased subcutaneous adipose tissue, muscular atrophy, joint contractures, recurrent skin eruptions, hyper-γ-globulinemia, and reduced natural killer cell activity. Some of their clinical features are similar to those of partial lipodystrophy, but they are distinct in that muscular atrophy, joint contractures and recurrent skin eruptions are not found in patients with partial lipodystrophy. Thirteen other Japanese patients with similar clinical manifestations have been reported. We propose that such cases should be considered a distinct clinical entity.<br>(Internal Medicine 32: 42-45, 1993)
収録刊行物
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- Internal Medicine
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Internal Medicine 32 (1), 42-45, 1993
一般社団法人 日本内科学会