Nakajo-Nishimura Syndrome Overview
Learn About Nakajo-Nishimura Syndrome
Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing).
Nakajo-Nishimura syndrome is caused by mutations in the PSMB8 gene. This gene provides instructions for making one part (subunit) of specialized cell structures called immunoproteasomes, which are found primarily in immune system cells. Immunoproteasomes play an important role in regulating the immune system's response to foreign invaders, such as viruses and bacteria. One of the primary functions of immunoproteasomes is to help the immune system distinguish the body's own proteins from proteins made by foreign invaders, so the immune system can respond appropriately to infection.
Nakajo-Nishimura syndrome appears to be rare and has been described only in the Japanese population. About 30 cases have been reported in the medical literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Monongalia County General Hospital Company
Mary Hall is a Dermatologist in Morgantown, West Virginia. Dr. Hall and is rated as an Advanced provider by MediFind in the treatment of Nakajo-Nishimura Syndrome. Her top areas of expertise are Rosacea, Actinic Keratosis, Stiff Skin Syndrome, and Congenital Hypotrichosis Milia. Dr. Hall is currently accepting new patients.
West Virginia University Medical Corporation
Erica Ghareeb is a Dermatologist in Morgantown, West Virginia. Dr. Ghareeb and is rated as an Advanced provider by MediFind in the treatment of Nakajo-Nishimura Syndrome. Her top areas of expertise are Melanoma, Actinic Keratosis, Warts, and Seborrheic Keratosis. Dr. Ghareeb is currently accepting new patients.
Roxann Powers is a Dermatologist in Morgantown, West Virginia. Dr. Powers and is rated as an Experienced provider by MediFind in the treatment of Nakajo-Nishimura Syndrome. Her top areas of expertise are Actinic Keratosis, Melanoma, Warts, and Giant Congenital Nevus. Dr. Powers is currently accepting new patients.
Published Date: November 01, 2013
Published By: National Institutes of Health
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