Hereditary Lipo-Muscular Atrophy with Joint Contracture, Skin Eruptions and Hyper-γ-Globulinemia: a New Syndrome

Masami TANAKA; Nobuyuki MIYATANI; Shigeru YAMADA; Kotaro MIYASHITA; Itaru TOYOSHIMA; Kaori SAKUMA; Keiko TANAKA; Tatsuhiko YUASA; Tadashi MIYATAKE; Tadao TSUBAKI

doi:10.2169/internalmedicine.32.42

Masami TANAKA, Nobuyuki MIYATANI, Shigeru YAMADA, Kotaro MIYASHITA, Itaru TOYOSHIMA, Kaori SAKUMA, Keiko TANAKA, Tatsuhiko YUASA, Tadashi MIYATAKE, Tadao TSUBAKI

Author information

Masami TANAKA
the Department of Neurology, Brain Research Institute, Niigata University
Nobuyuki MIYATANI
the Department of Neurology, Brain Research Institute, Niigata University
Shigeru YAMADA
the Department of Neurology, Brain Research Institute, Niigata University
Kotaro MIYASHITA
the Department of Neurology, Brain Research Institute, Niigata University
Itaru TOYOSHIMA
the Department of Neurology, Brain Research Institute, Niigata University
Kaori SAKUMA
the Department of Neurology, Brain Research Institute, Niigata University
Keiko TANAKA
the Department of Neurology, Brain Research Institute, Niigata University
Tatsuhiko YUASA
the Department of Neurology, Brain Research Institute, Niigata University
Tadashi MIYATAKE
the Department of Neurology, Brain Research Institute, Niigata University
Tadao TSUBAKI
the Department of Neurology, Tokyo Metropolitan Neurological Hospital

Keywords: lipodystrophy, lipoatrophy, autoimmune, autosomal recessive, natural killer, muscular atrophy

JOURNAL FREE ACCESS

1993 Volume 32 Issue 1 Pages 42-45

DOI https://doi.org/10.2169/internalmedicine.32.42

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Abstract

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.
(Internal Medicine 32: 42-45, 1993)

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