Nakajo-Nishimura Syndrome

Summarized by Plex Health
Last Updated: 02 May 2022

Nakajo-Nishimura syndrome is an inherited condition that impacts many components of the body and has been explained only in the Japanese population. Later in childhood years, affected individuals develop joint pain and joint deformities called contractures that limit movement, especially in the joints, hands, and wrists. The combination of muscle mass and fat loss worsens with time, leading to a very slim appearance in the face, upper body, and arms. Other symptoms and signs of Nakajo-Nishimura syndrome can consist of an enlarged liver and spleen, a scarcity of red cell, a decreased quantity of blood cells called platelets, and abnormal deposits of calcium in an area of the brain called the basal ganglia. Intellectual special needs has been reported in some affected individuals. The symptoms and signs of Nakajo-Nishimura syndrome overlap with those of two other problems: one called joint contractures, muscular degeneration, microcytic anemia, and panniculitis-induced lipodystrophy syndrome; and the other called chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature level syndrome. All three conditions are characterized by skin irregularities and lipodystrophy.

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