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*Jabs Syndrome was introduced in the same year (1985) by Dr. A. Douglas Jabs following visiting patients with [[polyarthritis]], [[uveitis]], and [[cranial]] [[neuropathy]].<ref name="JabsHouk1985">{{cite journal|last1=Jabs|first1=Douglas A.|last2=Houk|first2=J.Lawrence|last3=Bias|first3=Wilma B.|last4=Arnett|first4=Frank C.|title=Familial granulomatous synovitis, uveitis, and cranial neuropathies|journal=The American Journal of Medicine|volume=78|issue=5|year=1985|pages=801–804|issn=00029343|doi=10.1016/0002-9343(85)90286-4}}</ref> | *Jabs Syndrome was introduced in the same year (1985) by Dr. A. Douglas Jabs following visiting patients with [[polyarthritis]], [[uveitis]], and [[cranial]] [[neuropathy]].<ref name="JabsHouk1985">{{cite journal|last1=Jabs|first1=Douglas A.|last2=Houk|first2=J.Lawrence|last3=Bias|first3=Wilma B.|last4=Arnett|first4=Frank C.|title=Familial granulomatous synovitis, uveitis, and cranial neuropathies|journal=The American Journal of Medicine|volume=78|issue=5|year=1985|pages=801–804|issn=00029343|doi=10.1016/0002-9343(85)90286-4}}</ref> | ||
*In 19??, NOD2 mutations were first implicated in the [[pathogenesis]] of Blau syndrome. | *In 19??, NOD2 mutations were first implicated in the [[pathogenesis]] of Blau syndrome. | ||
==Classification== | ==Classification== | ||
*There is no established system for the [[classification]] of Blau syndrome. | *There is no established system for the [[classification]] of Blau syndrome. | ||
| Line 35: | Line 34: | ||
There is insufficient evidence to recommend routine [[screening]] for Blau syndrome. | There is insufficient evidence to recommend routine [[screening]] for Blau syndrome. | ||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
*If left untreated, patients with Blau syndrome may progress to develop [[blindness]], [[vasculitis]], and [[joint]] [[deformities]]. | *If left untreated, patients with Blau syndrome may progress to develop [[blindness]], [[vasculitis]], and [[joint]] [[deformities]].<ref name="RoséAróstegui2009">{{cite journal|last1=Rosé|first1=Carlos D.|last2=Aróstegui|first2=Juan I.|last3=Martin|first3=Tammy M.|last4=Espada|first4=Graciela|last5=Scalzi|first5=Lisabeth|last6=Yagüe|first6=Jordi|last7=Rosenbaum|first7=James T.|last8=Modesto|first8=Consuelo|last9=Cristina Arnal|first9=Maria|last10=Merino|first10=Rosa|last11=García-Consuegra|first11=Julia|last12=Carballo Silva|first12=María Antonia|last13=Wouters|first13=Carine H.|title=NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain|journal=Arthritis & Rheumatism|volume=60|issue=6|year=2009|pages=1797–1803|issn=00043591|doi=10.1002/art.24533}}</ref><ref name="pmid20040255">{{cite journal |vauthors=Glass DA, Maender J, Metry D |title=Two pediatric cases of Blau syndrome |journal=Dermatol. Online J. |volume=15 |issue=12 |pages=5 |date=December 2009 |pmid=20040255 |doi= |url=}}</ref> | ||
*Other possible [[complications]] include: | *Other possible [[complications]] include: | ||
**[[Arterial hypertension]] | **[[Arterial hypertension]] | ||
**[[Pulmonary embolism]] | **[[Pulmonary embolism]] | ||
*Prognosis is generally poor if left untreated. | |||
*Prognosis is generally | |||
==Diagnosis== | ==Diagnosis== | ||
===Diagnostic Study of Choice=== | ===Diagnostic Study of Choice=== | ||
| Line 71: | Line 69: | ||
**[[Uveitis]] | **[[Uveitis]] | ||
**[[Conjunctivitis]] | **[[Conjunctivitis]] | ||
===Laboratory Findings=== | ===Laboratory Findings=== | ||
*An elevated [[concentration]] of serum [[Acute phase reactant|acute phase reactants]] is [[diagnostic]] of Blau syndrome. | *An elevated [[concentration]] of serum [[Acute phase reactant|acute phase reactants]] is [[diagnostic]] of Blau syndrome. | ||
Revision as of 18:39, 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
- Blau syndrome may be caused by a mutation in the NOD2 gene.
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
- An elevated concentration of serum acute phase reactants is diagnostic of Blau syndrome.
Electrocardiogram
- There are no ECG findings associated with Blau syndrome.
X-ray
- There are no x-ray findings associated with Blau syndrome.
Echocardiography or Ultrasound
- There are no echocardiography/ultrasound findings associated with Blau syndrome.
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.
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 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.
- ↑ Glass DA, Maender J, Metry D (December 2009). "Two pediatric cases of Blau syndrome". Dermatol. Online J. 15 (12): 5. PMID 20040255.