Blau syndrome
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Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.
Descrizione
Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.
A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps (nodules) that can be felt under the skin. The rash is usually found on the torso, arms, and legs.
Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterised by inflammation of the lining of the joints (the synovium). This inflammation, known as synovitis, is associated with swelling and joint pain. Synovitis usually begins in the joints of the hands, feet, wrists, and ankles. As the condition worsens, it can involve additional joints and restrict movement by decreasing the range of motion in many joints. In people with Blau syndrome, the tendons as well as the joints can be inflamed, causing tenosynovitis.
Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (the uvea). The uvea includes the colored portion of the eye (the iris) and related tissues that underlie the white part of the eye (the sclera). Uveitis can cause eye irritation and pain, increased sensitivity to bright light (photophobia), and blurred vision. Other structures in the eye can also become inflamed, including the outermost protective layer of the eye (the conjunctiva), the tear glands, the specialized light-sensitive tissue that lines the back of the eye (the retina), and the nerve that carries information from the eye to the brain (the optic nerve). While individuals with Blau syndrome may have normal vision, inflammation of any of these structures can lead to severe vision impairment or blindness.
Some individuals with Blau syndrome develop kidney disease (nephritis) due to inflammation. They may also have deposits of calcium in the kidneys (nephrocalcinosis) and often develop chronic kidney failure. Inflammation of blood vessels (vasculitis) can cause scarring and tissue death in the vessels and impedes blood flow to tissues and organs.
Less commonly, Blau syndrome can affect other parts of the body, including the liver, spleen, lymph nodes, brain, blood vessels, lungs, and heart. Inflammation involving these organs and tissues can impair their function and cause life-threatening complications. Rarely, affected individuals have disturbances in nerve function (neuropathy), episodes of fever, or high blood pressure in the blood vessels that carry blood from the heart to the lungs (pulmonary hypertension).
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
Arthrocutaneouveal granulomatosis
Early-onset sarcoidosis
Familial granulomatosis, Blau type
Familial juvenile systemic granulomatosis
Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial
Pediatric granulomatous arthritis
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Ulteriori letture e riferimenti
- Blau syndrome; MedlinePlus, National Library of Medicine.
- Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, Fuji A, Yuasa T, Manki A, Sakurai Y, Nakajima M, Kobayashi H, Fujiwara I, Tsutsumi H, Utani A, Nishigori C, Heike T, Nakahata T, Miyachi Y. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood. 2005 Feb 1;105(3):1195-7. doi: 10.1182/blood-2004-07-2972. Epub 2004 Sep 30.
- Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, Chamaillard M, Zouali H, Thomas G, Hugot JP. CARD15 mutations in Blau syndrome. Nat Genet. 2001 Sep;29(1):19-20. doi: 10.1038/ng720.
- Pillai P, Sobrin L. Blau syndrome-associated uveitis and the NOD2 gene. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):327-32. doi: 10.3109/08820538.2013.825285. Epub 2013 Sep 6.
- Punzi L, Furlan A, Podswiadek M, Gava A, Valente M, De Marchi M, Peserico A. Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. Autoimmun Rev. 2009 Jan;8(3):228-32. doi: 10.1016/j.autrev.2008.07.034. Epub 2008 Aug 19.
- Punzi L, Gava A, Galozzi P, Sfriso P. Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome. Best Pract Res Clin Rheumatol. 2011 Oct;25(5):703-14. doi: 10.1016/j.berh.2011.10.017.
- Rose CD, Arostegui JI, Martin TM, Espada G, Scalzi L, Yague J, Rosenbaum JT, Modesto C, Cristina Arnal M, Merino R, Garcia-Consuegra J, Carballo Silva MA, Wouters CH. NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain. Arthritis Rheum. 2009 Jun;60(6):1797-803. doi: 10.1002/art.24533.
- Rose CD, Doyle TM, McIlvain-Simpson G, Coffman JE, Rosenbaum JT, Davey MP, Martin TM. Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. J Rheumatol. 2005 Feb;32(2):373-5.
- Rose CD, Martin TM, Wouters CH. Blau syndrome revisited. Curr Opin Rheumatol. 2011 Sep;23(5):411-8. doi: 10.1097/BOR.0b013e328349c430.
- Rose CD, Pans S, Casteels I, Anton J, Bader-Meunier B, Brissaud P, Cimaz R, Espada G, Fernandez-Martin J, Hachulla E, Harjacek M, Khubchandani R, Mackensen F, Merino R, Naranjo A, Oliveira-Knupp S, Pajot C, Russo R, Thomee C, Vastert S, Wulffraat N, Arostegui JI, Foley KP, Bertin J, Wouters CH. Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. Rheumatology (Oxford). 2015 Jun;54(6):1008-16. doi: 10.1093/rheumatology/keu437. Epub 2014 Nov 20.
- Wouters CH, Maes A, Foley KP, Bertin J, Rose CD. Blau syndrome, the prototypic auto-inflammatory granulomatous disease. Pediatr Rheumatol Online J. 2014 Aug 6;12:33. doi: 10.1186/1546-0096-12-33. eCollection 2014.
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