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Blau syndrome(BLAUS)

MedGen UID:
1684759
Concept ID:
C5201146
Disease or Syndrome
Synonyms: Arthrocutaneouveal granulomatosis; BLAUS; Granulomatosis, familial juvenile systemic; Granulomatosis, familial, Blau type; Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial; Jabs syndrome; Synovitis granulomatous with uveitis and cranial neuropathies
SNOMED CT: Blau syndrome (818950005)
 
Gene (location): NOD2 (16q12.1)
 
Monarch Initiative: MONDO:0008523
OMIM®: 186580

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]

Clinical features

From HPO
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.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Ear malformation
MedGen UID:
75618
Concept ID:
C0266589
Congenital Abnormality
An abnormality of the ear.
Abnormal cranial nerve morphology
MedGen UID:
344302
Concept ID:
C1854510
Anatomical Abnormality
Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
Synovitis
MedGen UID:
21051
Concept ID:
C0039103
Disease or Syndrome
Inflammation of a synovial membrane.
Tendonitis
MedGen UID:
21094
Concept ID:
C0039503
Disease or Syndrome
Inflammation of a tendon.
Joint swelling
MedGen UID:
56258
Concept ID:
C0152031
Finding
The presence of swelling in a joint.
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.
Erythema nodosum
MedGen UID:
41858
Concept ID:
C0014743
Disease or Syndrome
An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.
Pericarditis
MedGen UID:
18377
Concept ID:
C0031046
Disease or Syndrome
Inflammation of the sac-like covering around the heart (pericardium).
Uveitis
MedGen UID:
52961
Concept ID:
C0042164
Disease or Syndrome
Inflammation of one or all portions of the uveal tract.
Nongranulomatous uveitis
MedGen UID:
870351
Concept ID:
C4024795
Disease or Syndrome
A form of uveitis that is not associated with the formation of granulomas.
Skin ulcer
MedGen UID:
52369
Concept ID:
C0037299
Disease or Syndrome
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Intermittent generalized erythematous papular rash
MedGen UID:
413203
Concept ID:
C2749995
Finding
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Iritis
MedGen UID:
7160
Concept ID:
C0022081
Disease or Syndrome
Inflammation of the iris.
Cystoid macular edema
MedGen UID:
7435
Concept ID:
C0024440
Disease or Syndrome
Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Band-shaped keratopathy
MedGen UID:
56354
Concept ID:
C0155120
Disease or Syndrome
An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBlau syndrome

Professional guidelines

PubMed

Lassoued Ferjani H, Kharrat L, Ben Nessib D, Kaffel D, Maatallah K, Hamdi W
Eur J Pediatr 2024 Jan;183(1):1-7. Epub 2023 Sep 22 doi: 10.1007/s00431-023-05204-9. PMID: 37735224
Ueki Y, Takimoto-Ito R, Saito MK, Tanizaki H, Kambe N
Front Immunol 2023;14:1211240. Epub 2023 Jun 21 doi: 10.3389/fimmu.2023.1211240. PMID: 37415984Free PMC Article
Kitagawa Y, Kawasaki Y, Yamasaki Y, Kambe N, Takei S, Saito MK
J Allergy Clin Immunol 2022 Jan;149(1):176-188.e7. Epub 2021 Jun 24 doi: 10.1016/j.jaci.2021.05.030. PMID: 34175136

Recent clinical studies

Etiology

Smith JR, Mochizuki M
Ocul Immunol Inflamm 2023 Dec;31(10):1965-1970. Epub 2023 Dec 14 doi: 10.1080/09273948.2023.2282609. PMID: 37983819
Huang XF, Brown MA
Genes Immun 2022 Apr;23(2):57-65. Epub 2022 Apr 4 doi: 10.1038/s41435-022-00168-6. PMID: 35379982Free PMC Article
Zhong Z, Ding J, Su G, Liao W, Gao Y, Zhu Y, Deng Y, Li F, Du L, Gao Y, Yang P
Ophthalmology 2022 Jul;129(7):821-828. Epub 2022 Mar 18 doi: 10.1016/j.ophtha.2022.03.014. PMID: 35314268
Wick MR
Semin Diagn Pathol 2017 May;34(3):301-311. Epub 2016 Dec 14 doi: 10.1053/j.semdp.2016.12.003. PMID: 28094163
Peleg H, Ben-Chetrit E
Curr Opin Rheumatol 2017 Jan;29(1):4-11. doi: 10.1097/BOR.0000000000000347. PMID: 27755121

Diagnosis

Smith JR, Mochizuki M
Ocul Immunol Inflamm 2023 Dec;31(10):1965-1970. Epub 2023 Dec 14 doi: 10.1080/09273948.2023.2282609. PMID: 37983819
Zhong Z, Ding J, Su G, Liao W, Gao Y, Zhu Y, Deng Y, Li F, Du L, Gao Y, Yang P
Ophthalmology 2022 Jul;129(7):821-828. Epub 2022 Mar 18 doi: 10.1016/j.ophtha.2022.03.014. PMID: 35314268
Kaufman KP, Becker ML
Curr Allergy Asthma Rep 2021 Feb 9;21(2):10. doi: 10.1007/s11882-021-00991-3. PMID: 33560445Free PMC Article
Takada S, Saito MK, Kambe N
G Ital Dermatol Venereol 2020 Oct;155(5):537-541. Epub 2020 Jul 2 doi: 10.23736/S0392-0488.19.06524-6. PMID: 32618442
Lachmann HJ
Best Pract Res Clin Rheumatol 2017 Aug;31(4):596-609. Epub 2018 Jan 11 doi: 10.1016/j.berh.2017.12.001. PMID: 29773275

Therapy

Lassoued Ferjani H, Kharrat L, Ben Nessib D, Kaffel D, Maatallah K, Hamdi W
Eur J Pediatr 2024 Jan;183(1):1-7. Epub 2023 Sep 22 doi: 10.1007/s00431-023-05204-9. PMID: 37735224
Iriqat S, Safieh MA, Fatouleh M, Alkaiyat A
Pediatr Rheumatol Online J 2021 Aug 31;19(1):138. doi: 10.1186/s12969-021-00633-y. PMID: 34465352Free PMC Article
Lachmann HJ
Best Pract Res Clin Rheumatol 2017 Aug;31(4):596-609. Epub 2018 Jan 11 doi: 10.1016/j.berh.2017.12.001. PMID: 29773275
Azizi G, Khadem Azarian S, Nazeri S, Mosayebian A, Ghiasy S, Sadri G, Mohebi A, Khan Nazer NH, Afraei S, Mirshafiey A
Iran J Allergy Asthma Immunol 2016 Dec;15(6):430-444. PMID: 28129677
Hausmann JS, Dedeoglu F
Dermatol Clin 2013 Jul;31(3):481-94. Epub 2013 Jun 2 doi: 10.1016/j.det.2013.04.003. PMID: 23827250

Prognosis

Kaufman KP, Becker ML
Curr Allergy Asthma Rep 2021 Feb 9;21(2):10. doi: 10.1007/s11882-021-00991-3. PMID: 33560445Free PMC Article
Suresh S, Tsui E
Curr Opin Ophthalmol 2020 Nov;31(6):532-537. doi: 10.1097/ICU.0000000000000705. PMID: 33009086
Alghamdi M
Curr Rheumatol Rep 2018 Nov 17;20(12):87. doi: 10.1007/s11926-018-0788-3. PMID: 30446874
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
Kanazawa N
J Dermatol Sci 2012 Jun;66(3):183-9. Epub 2012 Jan 18 doi: 10.1016/j.jdermsci.2012.01.004. PMID: 22336993

Clinical prediction guides

Kumrah R, Pilania RK, Menia NK, Rawat A, Sharma J, Gupta A, Vignesh P, Jindal AK, Rikhi R, Agarwal A, Gupta V, Singh S, Suri D
Front Immunol 2022;13:932919. Epub 2022 Sep 15 doi: 10.3389/fimmu.2022.932919. PMID: 36189202Free PMC Article
Takada S, Saito MK, Kambe N
G Ital Dermatol Venereol 2020 Oct;155(5):537-541. Epub 2020 Jul 2 doi: 10.23736/S0392-0488.19.06524-6. PMID: 32618442
Boyle JP, Parkhouse R, Monie TP
Open Biol 2014 Dec;4(12) doi: 10.1098/rsob.140178. PMID: 25520185Free PMC Article
Sfriso P, Caso F, Tognon S, Galozzi P, Gava A, Punzi L
Autoimmun Rev 2012 Nov;12(1):44-51. Epub 2012 Aug 2 doi: 10.1016/j.autrev.2012.07.028. PMID: 22884558
Kanazawa N
J Dermatol Sci 2012 Jun;66(3):183-9. Epub 2012 Jan 18 doi: 10.1016/j.jdermsci.2012.01.004. PMID: 22336993

Recent systematic reviews

Maccora I, Marrani E, Mastrolia MV, Abu-Rumeileh S, Maniscalco V, Fusco E, Barbati F, Pagnini I, Simonini G
Autoimmun Rev 2021 Nov;20(11):102944. Epub 2021 Sep 9 doi: 10.1016/j.autrev.2021.102944. PMID: 34509650

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