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Blau syndrome(BLAUS)

MedGen UID:
348835
Concept ID:
C1861303
Disease or Syndrome
Synonyms: Arthrocutaneouveal granulomatosis; BLAUS; Granulomatosis, familial juvenile systemic; Granulomatosis, familial, Blau type; Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial; Jabs syndrome; SARCOIDOSIS, EARLY-ONSET; Synovitis granulomatous with uveitis and cranial neuropathies
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Early onset sarcoidosis (699861000); Arthrocutaneouveal granulamotosis (699861000); Familial juvenile systemic granulomatosis (699861000); Familial granulomatosis, Blau type (699861000); Pediatric granulomatous arthritis (699861000); Blau syndrome (699861000); Familial granulomatous inflammatory arthritis, dermatitis and uveitis (699861000); Granulomatous inflammatory arthritis, dermatitis and uveitis, familial (699861000)
 
Gene (location): NOD2 (16q12.1)
OMIM®: 186580
Orphanet: ORPHA90340

Definition

Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998). [from OMIM]

Additional description

From GHR
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 characterized by inflammation of the lining of 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 restrict movement by decreasing the range of motion in many joints.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). Inflammation of any of these structures can lead to severe vision impairment or blindness.Less commonly, Blau syndrome can affect other parts of the body, including the liver, kidneys, brain, blood vessels, lungs, and heart. Inflammation involving these organs and tissues can cause life-threatening complications.  https://ghr.nlm.nih.gov/condition/blau-syndrome

Clinical features

Flexion contracture of toe
MedGen UID:
237248
Concept ID:
C1406835
Finding
One or more bent (flexed) toe joints that cannot be straightened actively or passively.
Ear malformation
MedGen UID:
75618
Concept ID:
C0266589
Congenital Abnormality
An abnormality of the ear.
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Flexion contracture of toe
MedGen UID:
237248
Concept ID:
C1406835
Finding
One or more bent (flexed) toe joints that cannot be straightened actively or passively.
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Flexion contracture of toe
MedGen UID:
237248
Concept ID:
C1406835
Finding
One or more bent (flexed) toe joints that cannot be straightened actively or passively.
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Flexion contracture of toe
MedGen UID:
237248
Concept ID:
C1406835
Finding
One or more bent (flexed) toe joints that cannot be straightened actively or passively.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBlau syndrome
Follow this link to review classifications for Blau syndrome in Orphanet.

Recent clinical studies

Etiology

Otsubo Y, Okafuji I, Shimizu T, Nonaka F, Ikeda K, Eguchi K
Mod Rheumatol 2017 Jan;27(1):169-173. Epub 2014 Nov 10 doi: 10.3109/14397595.2014.964388. PMID: 25381727
Rosé 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, Thomée C, Vastert S, Wulffraat N, Arostegui JI, Foley KP, Bertin J, Wouters CH
Rheumatology (Oxford) 2015 Jun;54(6):1008-16. Epub 2014 Nov 20 doi: 10.1093/rheumatology/keu437. PMID: 25416713
Carreño E, Guly CM, Chilov M, Hinchcliffe A, Arostegui JI, Lee RW, Dick AD, Ramanan AV
Acta Ophthalmol 2015 May;93(3):253-7. Epub 2014 Sep 10 doi: 10.1111/aos.12544. PMID: 25209167
Caso F, Costa L, Rigante D, Vitale A, Cimaz R, Lucherini OM, Sfriso P, Verrecchia E, Tognon S, Bascherini V, Galeazzi M, Punzi L, Cantarini L
Autoimmun Rev 2014 Dec;13(12):1220-9. Epub 2014 Aug 23 doi: 10.1016/j.autrev.2014.08.010. PMID: 25182201
Wouters CH, Maes A, Foley KP, Bertin J, Rose CD
Pediatr Rheumatol Online J 2014;12:33. Epub 2014 Aug 6 doi: 10.1186/1546-0096-12-33. PMID: 25136265Free PMC Article

Diagnosis

Otsubo Y, Okafuji I, Shimizu T, Nonaka F, Ikeda K, Eguchi K
Mod Rheumatol 2017 Jan;27(1):169-173. Epub 2014 Nov 10 doi: 10.3109/14397595.2014.964388. PMID: 25381727
Rosé 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, Thomée C, Vastert S, Wulffraat N, Arostegui JI, Foley KP, Bertin J, Wouters CH
Rheumatology (Oxford) 2015 Jun;54(6):1008-16. Epub 2014 Nov 20 doi: 10.1093/rheumatology/keu437. PMID: 25416713
Carreño E, Guly CM, Chilov M, Hinchcliffe A, Arostegui JI, Lee RW, Dick AD, Ramanan AV
Acta Ophthalmol 2015 May;93(3):253-7. Epub 2014 Sep 10 doi: 10.1111/aos.12544. PMID: 25209167
Ikeda K, Kambe N, Takei S, Nakano T, Inoue Y, Tomiita M, Oyake N, Satoh T, Yamatou T, Kubota T, Okafuji I, Kanazawa N, Nishikomori R, Shimojo N, Matsue H, Nakajima H
Arthritis Res Ther 2014 Apr 8;16(2):R89. doi: 10.1186/ar4533. PMID: 24713464Free PMC Article
Okafuji I, Nishikomori R, Kanazawa N, Kambe N, Fujisawa A, Yamazaki S, Saito M, Yoshioka T, Kawai T, Sakai H, Tanizaki H, Heike T, Miyachi Y, Nakahata T
Arthritis Rheum 2009 Jan;60(1):242-50. doi: 10.1002/art.24134. PMID: 19116920

Therapy

Otsubo Y, Okafuji I, Shimizu T, Nonaka F, Ikeda K, Eguchi K
Mod Rheumatol 2017 Jan;27(1):169-173. Epub 2014 Nov 10 doi: 10.3109/14397595.2014.964388. PMID: 25381727
Carreño E, Guly CM, Chilov M, Hinchcliffe A, Arostegui JI, Lee RW, Dick AD, Ramanan AV
Acta Ophthalmol 2015 May;93(3):253-7. Epub 2014 Sep 10 doi: 10.1111/aos.12544. PMID: 25209167
Simonini G, Xu Z, Caputo R, De Libero C, Pagnini I, Pascual V, Cimaz R
Arthritis Rheum 2013 Feb;65(2):513-8. doi: 10.1002/art.37776. PMID: 23124805Free PMC Article
Raiji VR, Miller MM, Jung LK
J AAPOS 2011 Apr;15(2):205-7. doi: 10.1016/j.jaapos.2011.02.004. PMID: 21596301
Martin TM, Zhang Z, Kurz P, Rosé CD, Chen H, Lu H, Planck SR, Davey MP, Rosenbaum JT
Arthritis Rheum 2009 Feb;60(2):611-8. doi: 10.1002/art.24222. PMID: 19180500Free PMC Article

Prognosis

Otsubo Y, Okafuji I, Shimizu T, Nonaka F, Ikeda K, Eguchi K
Mod Rheumatol 2017 Jan;27(1):169-173. Epub 2014 Nov 10 doi: 10.3109/14397595.2014.964388. PMID: 25381727
Carreño E, Guly CM, Chilov M, Hinchcliffe A, Arostegui JI, Lee RW, Dick AD, Ramanan AV
Acta Ophthalmol 2015 May;93(3):253-7. Epub 2014 Sep 10 doi: 10.1111/aos.12544. PMID: 25209167
Pillai P, Sobrin L
Semin Ophthalmol 2013 Sep-Nov;28(5-6):327-32. Epub 2013 Sep 6 doi: 10.3109/08820538.2013.825285. PMID: 24010719
Okafuji I, Nishikomori R, Kanazawa N, Kambe N, Fujisawa A, Yamazaki S, Saito M, Yoshioka T, Kawai T, Sakai H, Tanizaki H, Heike T, Miyachi Y, Nakahata T
Arthritis Rheum 2009 Jan;60(1):242-50. doi: 10.1002/art.24134. PMID: 19116920
Milman N, Nielsen FC, Hviid TV, Hansen Tv
Clin Respir J 2007 Dec;1(2):74-9. doi: 10.1111/j.1752-699X.2007.00037.x. PMID: 20298285

Clinical prediction guides

Dugan J, Griffiths E, Snow P, Rosenzweig H, Lee E, Brown B, Carr DW, Rose C, Rosenbaum J, Davey MP
J Immunol 2015 Jan 1;194(1):349-57. Epub 2014 Nov 26 doi: 10.4049/jimmunol.1402330. PMID: 25429073Free PMC Article
Rosé 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, Thomée C, Vastert S, Wulffraat N, Arostegui JI, Foley KP, Bertin J, Wouters CH
Rheumatology (Oxford) 2015 Jun;54(6):1008-16. Epub 2014 Nov 20 doi: 10.1093/rheumatology/keu437. PMID: 25416713
Ikeda K, Kambe N, Takei S, Nakano T, Inoue Y, Tomiita M, Oyake N, Satoh T, Yamatou T, Kubota T, Okafuji I, Kanazawa N, Nishikomori R, Shimojo N, Matsue H, Nakajima H
Arthritis Res Ther 2014 Apr 8;16(2):R89. doi: 10.1186/ar4533. PMID: 24713464Free PMC Article
Raiji VR, Miller MM, Jung LK
J AAPOS 2011 Apr;15(2):205-7. doi: 10.1016/j.jaapos.2011.02.004. PMID: 21596301
Okafuji I, Nishikomori R, Kanazawa N, Kambe N, Fujisawa A, Yamazaki S, Saito M, Yoshioka T, Kawai T, Sakai H, Tanizaki H, Heike T, Miyachi Y, Nakahata T
Arthritis Rheum 2009 Jan;60(1):242-50. doi: 10.1002/art.24134. PMID: 19116920

Recent systematic reviews

Yao Q
Semin Arthritis Rheum 2013 Aug;43(1):125-30. Epub 2013 Jan 24 doi: 10.1016/j.semarthrit.2012.12.005. PMID: 23352252

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