Schnitzler syndrome is a rare autoinflammatory condition. Signs and symptoms of the condition vary but may include urticaria; recurrent fevers; joint pain and inflammation; organomegaly (abnormally enlarged organs); and/or blood abnormalities. The exact underlying cause of the condition is unknown; however, most cases occur sporadically in people with no family history of the condition. Treatment is focused on alleviating the signs and symptoms associated with the condition and may include various medications and/or phototherapy.

Other scientists speculate that alterations in cytokines may play a role in the development of Schnitzler syndrome. Cytokines are specialized proteins that play an important role in the immune response. They are secreted by certain immune systemcells and play a vital role in controlling the growth and activity of other immune system cells. Abnormal findings involving a specific cytokine called interleukin-1 have been found in some people with Schnitzler syndrome.

• Red raised patches of skin (urticaria) that may become itchy
• Recurrent fevers
• Join pain and inflammation
• Organomegaly (enlarged internal organs) often involving the lymph nodes, liver and/or spleen
• Bone pain
• Blood abnormalities
• Muscle aches
• Fatigue
• Weight loss

People affected by Schnitzler syndrome also have an increased risk of developing certain lymphoproliferative disorders.

Medscape Reference's Web site offers more specific information on the diagnosis of Schnitzler syndrome. Please click on the link to access this resource.

• Nonsteroidal anti-inflammatory drugs (NSAIDs)
• Corticosteroids
• Immunosuppressive agents
• Interleukin-1 receptor antagonists (medications that inhibit the cytokine IL-1)
• Colchicine
• Dapsone
• Thalidomide
• Rituximab

Some studies suggest that phototherapy may improve the rash in some affected people.

Medscape Reference and the National Organization for Rare Disorders both offer additional information regarding the treatment and management of Schnitzler syndrome. Please click on the links to access these resources.

The long-term outlook (prognosis) for people with Schnitzler syndrome is generally good. Although the condition is chronic and symptoms can be a nuisance, it generally does not progress to severe disease in most affected people. However, approximately 10-15% of people with Schnitzler syndrome develop a lymphoproliferative disorder.