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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Blau syndrome


Other Names for this Disease
  • ACUG
  • Arthrocutaneouveal granulomatosis
  • Granulomatosis, familial juvenile systemic
  • Granulomatosis, familial, Blau type
  • Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial
More Names
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Overview


Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis.[1] It has variable expressivity and usually affects preschool age children younger than four years of age. Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and irritation of the uvea) and focal posterior synechiae (adhesion of the iris to the cornea). Permanent bending of the fingers and toes (camptodactyly) and other findings have also been reported. It is caused by mutations in the NOD2 gene and is inherited in an autosomal dominant manner. Blau syndrome and early-onset sarcoidosis have the same symptoms and genetic cause, but early-onset sarcoidosis is caused by de novo (new) mutations and occurs sporadically (in individuals with no history of the disorder in the family).[2]
Last updated: 5/5/2011

References

  1. Kozo Yasui et al. Thalidomide dramatically improves the symptoms of early-onset Sarcoidosis/Blau syndrome: Its possible action and mechanism. Arthritis & Rheumatism. January 2010; 62(1):250-257. http://onlinelibrary.wiley.com/doi/10.1002/art.25035/full. Accessed 5/5/2011.
  2. Donald A Glass II, Jennifer Maender, Denise Metry. Two pediatric cases of Blau syndrome. Dermatology Online Journal. December 2009; 15(12):http://dermatology.cdlib.org/1512/articles/blau/glass.html. Accessed 5/5/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Blau syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

  • The Paediatric Rheumatology International Trials Organisation (PRINTO) Website contains a factsheet about Blau syndrome.  This Web site is a collaboration between PRINTO and the Paediatric Rheumatology European Society (PRES), funded by the European Union.  PRINTO is a not for profit international public network made up of academic and/or clinical centers engaged in the research and clinical care of children with pediatric rheumatic diseases.  Click this Blau syndrome link to read the factsheet.
  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Blau syndrome. Click on the link to view a sample search on this topic.