Blau syndrome: Difference between revisions
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==Treatment== | ==Treatment== | ||
===Medical Therapy=== | ===Medical Therapy=== | ||
*There is no treatment for Blau syndrome; the mainstay of therapy is supportive care. | *There is no treatment for Blau syndrome; the mainstay of therapy is supportive care.<ref name="DeSouzaShah2019">{{cite journal|last1=DeSouza|first1=Philip J.|last2=Shah|first2=Rajiv|title=Characterization of Blau syndrome panuveitis with wide-field fluorescein angiography|journal=American Journal of Ophthalmology Case Reports|volume=14|year=2019|pages=92–94|issn=24519936|doi=10.1016/j.ajoc.2019.03.006}}</ref> | ||
*Treatment options for mild clinical phenotype include: | |||
**Topical steroid drops | |||
**NSAIDs | |||
**Methotrexate | |||
*Treatment options for severe clinical phenotype include: | |||
**Systemic corticosteroids | |||
**Systemic immune suppression with biologic agents | |||
===Surgery=== | ===Surgery=== | ||
*[[Surgical]] intervention is not recommended for the management of Blau syndrome. | *[[Surgical]] intervention is not recommended for the management of Blau syndrome. | ||
Revision as of 20:00, 22 July 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Synonyms and keywords: Pediatric Granulomatous Arthritis (PGA), Juvenile Systemic Granulomatosis, Early Onset Sarcoidosis, Jabs Syndrome, NOD2-associated disease-Blau
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Overview
Blau syndrome is characterized by familial granulomatous arthritis, iritis, and skin granulomas, comprising an autosomal dominantly inherited syndrome that overlaps both sarcoidosis and granuloma annulare.[1]:983[2]:149 Restated, Blau syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies and exanthema.[3]:232
Historical Perspective
- Blau syndrome was first discovered by Dr. Edward B. Blau, in 1985 following observation of a four-generation family with a variety of symptoms including granulomatous arthritis, iritis, and skin rash.[4]
- Jabs Syndrome was introduced in the same year (1985) by Dr. A. Douglas Jabs following visiting patients with polyarthritis, uveitis, and cranial neuropathy.[5]
- In 19??, NOD2 mutations were first implicated in the pathogenesis of Blau syndrome.
Classification
- There is no established system for the classification of Blau syndrome.
Pathophysiology
- The exact pathogenesis of Blau syndrome is not fully understood. However, it is caused by a mutation in the NOD2 gene.
- The disease is inherited in an autosomal dominant mode.
- This gene encodes a protein called xxxx, involving in the ....
- NOD2 mutation leads to overactivation of xxxxx which may trigger an exaggerated inflammatory response.
Causes
Differentiating Blau syndrome from Other Diseases
- Blau syndrome must be differentiated from other diseases that cause arthritis, skin rash, and ophthalmological involvement, such as Neonatal onset multisystem inflammatory disease (NOMID), cryopyrin-associated periodic syndrome (CAPS), and familial mediterranean fever.
- For more information on the differential diagnosis of Blau syndrome please click here.
Epidemiology and Demographics
- There is no available data on the prevalence and incidence of Blau syndrome.
- Blau syndrome commonly affects individuals younger than 4 years of age.
- There is no racial predilection to Blau syndrome.
- Blau syndrome affects men and women equally.
Risk Factors
- There are no established risk factors for Blau syndrome.
Screening
There is insufficient evidence to recommend routine screening for Blau syndrome.
Natural History, Complications, and Prognosis
- If left untreated, patients with Blau syndrome may progress to develop blindness, vasculitis, and joint deformities.[6][7]
- Other possible complications include:
- Prognosis is generally poor if left untreated.
Diagnosis
Diagnostic Study of Choice
The diagnosis of Blau syndrome is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
OR
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
OR
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
OR
There are no established criteria for the diagnosis of Blau syndrome.
History and Symptoms
- Blau syndrome first presents with a scaly rash often by 4 months of age. Fever, arthritis, abdominal pain, and other symptoms may present later by 4 years of age.[6]
- Rash spread follows a cephalocaudal order. It first appears on the face and then affects the trunk.
- Arthritis usually affects wrists, knees, and ankles and tends to be symmetrical and chronic.
Physical Examination
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- Common physical examination findings of Blau syndrome include fever, scaly rash, and arthritis.[6]
- Other possible findings include:
Laboratory Findings
- Common laboratory findings of Blau syndrome include:[7]
- Elevated acute phase reactant levels
- Hypercalcemia and hypercalciuria
- Elevated angiotensin converting enzyme (ACE) level
- Elevated immunoglobulins
- Leukopenia and eosinophilia
- Hematuria, proteinuria, pyuria
- Abnormal liver function tests
Electrocardiogram
- There are no ECG findings associated with Blau syndrome. However, pericarditis may be one of the possible complication of Blau syndrome.[6]
- For more information on ECG finding of pericarditis please click here
X-ray
- There are no x-ray findings associated with Blau syndrome.
Echocardiography or Ultrasound
- There are no echocardiography findings associated with Blau syndrome. However, pericarditis may be one of the possible complication of Blau syndrome.[6]
- For more information on echocardiography finding of pericarditis please click here
CT scan
- There are no CT scan findings associated with Blau syndrome.
MRI
- There are no MRI findings associated with Blau syndrome.
Other Imaging Findings
- There are no other imaging findings associated with Blau syndrome.
Other Diagnostic Studies
- There are no other diagnostic studies associated with Blau syndrome.
Treatment
Medical Therapy
- There is no treatment for Blau syndrome; the mainstay of therapy is supportive care.[8]
- Treatment options for mild clinical phenotype include:
- Topical steroid drops
- NSAIDs
- Methotrexate
- Treatment options for severe clinical phenotype include:
- Systemic corticosteroids
- Systemic immune suppression with biologic agents
Surgery
- Surgical intervention is not recommended for the management of Blau syndrome.
Primary Prevention
- There are no established measures for the primary prevention of Blau syndrome.
Secondary Prevention
- There are no established measures for the secondary prevention of Blau syndrome.
References
- ↑ Freedberg, et. al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
- ↑ Ferrero-Miliani L, Nielsen OH, Andersen PS, Girardin SE (2007). "Chronic inflammation: importance of NOD2 and NALP3 in interleukin-1beta generation". Clin. Exp. Immunol. 147 (2): 227–35. doi:10.1111/j.1365-2249.2006.03261.x. PMC 1810472. PMID 17223962. Unknown parameter
|month=ignored (help) - ↑ Blau, Edward B. (1985). "Familial granulomatous arthritis, iritis, and rash". The Journal of Pediatrics. 107 (5): 689–693. doi:10.1016/S0022-3476(85)80394-2. ISSN 0022-3476.
- ↑ Jabs, Douglas A.; Houk, J.Lawrence; Bias, Wilma B.; Arnett, Frank C. (1985). "Familial granulomatous synovitis, uveitis, and cranial neuropathies". The American Journal of Medicine. 78 (5): 801–804. doi:10.1016/0002-9343(85)90286-4. ISSN 0002-9343.
- ↑ 6.0 6.1 6.2 6.3 6.4 Rosé, Carlos D.; Aróstegui, Juan I.; Martin, Tammy M.; Espada, Graciela; Scalzi, Lisabeth; Yagüe, Jordi; Rosenbaum, James T.; Modesto, Consuelo; Cristina Arnal, Maria; Merino, Rosa; García-Consuegra, Julia; Carballo Silva, María Antonia; Wouters, Carine H. (2009). "NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain". Arthritis & Rheumatism. 60 (6): 1797–1803. doi:10.1002/art.24533. ISSN 0004-3591.
- ↑ 7.0 7.1 Glass DA, Maender J, Metry D (December 2009). "Two pediatric cases of Blau syndrome". Dermatol. Online J. 15 (12): 5. PMID 20040255.
- ↑ DeSouza, Philip J.; Shah, Rajiv (2019). "Characterization of Blau syndrome panuveitis with wide-field fluorescein angiography". American Journal of Ophthalmology Case Reports. 14: 92–94. doi:10.1016/j.ajoc.2019.03.006. ISSN 2451-9936.