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Disease Profile

Schnitzler syndrome

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Chronic urticaria with gammapathy; Chronic urticaria with macroglobulinemia; Chronic urticaria with gammopathy


Immune System Diseases; Musculoskeletal Diseases


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.[1][2][3]


The signs and symptoms of Schnitzler syndrome vary but may include:[1][2][3]

  • 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.[2]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Joint pain
Joint inflammation
Bone pain
Enlarged liver
Increased bone mineral density
Increased bone density
Increased circulating IgM level
Flat, discolored area of skin
Muscle ache
Muscle pain

[ more ]

Skin rash
Increased spleen size
30%-79% of people have these symptoms
Low number of red blood cells or hemoglobin

[ more ]

Elevated white blood count
High white blood count
Increased blood leukocyte number

[ more ]

5%-29% of people have these symptoms
Swollen lymph nodes
Cancer of lymphatic system
Peripheral neuropathy
Itchy skin
Skin itching

[ more ]

Inflammation of blood vessel


The exact underlying cause of Schnitzler syndrome is currently unknown. People affected by this condition often have a blood abnormality called monoclonal gammopathy, a condition in which the body over-produces certain immunoglobulins (typically immunoglobulin M). Immunoglobulins are proteins that are made by certain white blood cells. They play a role in the immune response by helping destroy bacteria, viruses, and other substances that appear foreign and harmful. Some researchers believe that the abnormal accumulation of immunoglobulins in the skin and other parts of the body may play a role in the development of the signs and symptoms of Schnitzler syndrome.[1][2]

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 system cells 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.[2][3][1]


A diagnosis of Schnitzler syndrome is often suspected based on the presence of characteristic signs and symptoms identified through physical exam, laboratory studies (i.e. immunoelectrophoresis) and/or imaging studies. Additional testing should also be ordered to rule out other conditions that cause similar features.[1][2]

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


The treatment of Schnitzler syndrome is aimed at alleviating the signs and symptoms associated with the condition. The following medications have been used with variable success:[1][2][3]

Some studies suggest that phototherapy may improve the rash in some affected people.[1][2]

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.


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Schnitzler syndrome. Click on the link to view a sample search on this topic.


        1. Joel G DeKoven, MD, MHSc, FRCPC. Schnitzler Syndrome. Medscape Reference. April 2014; https://emedicine.medscape.com/article/1050761-overview.
        2. Schnitzler Syndrome. National Organization for Rare Disorders. 2015; https://rarediseases.org/rare-diseases/schnitzler-syndrome/.
        3. Paul Jarrett, MD. Schnitzler syndrome. DermNet NZ. May 2015; https://www.dermnetnz.org/systemic/schnitzler.html.

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