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==Pathophysiology==
==Pathophysiology==
*The exact pathogenesis of Blau syndrome is not fully understood. However, it is caused by a mutation in the NOD2 gene.
*The exact pathogenesis of Blau syndrome is not fully understood. However, it is caused by a mutation in the NOD2 gene.
*The dieases is inherited in a autosomal dominant mode.
*The disease is inherited in an autosomal dominant mode.
*This gene encodes a protein called xxxx, involving in the ....
*This gene encodes a protein called xxxx, involving in the ....
*NOD2 mutation leads to overactivation of xxxxx which may trigger an exaggerated inflammatory response.  
*NOD2 mutation leads to overactivation of xxxxx which may trigger an exaggerated inflammatory response.  
==Causes==
==Causes==
*Blau syndrome may be caused by mutation in NOD2 gene.  
*Blau syndrome may be caused by a mutation in the NOD2 gene.  
==Differentiating Blau syndrome from Other Diseases==
==Differentiating Blau syndrome from Other Diseases==
Blau syndrome must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
Blau syndrome must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
==Epidemiology and Demographics==
==Epidemiology and Demographics==
The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
*There is no available data on the prevalence and incidence of Blau syndrome.
 
*Blau syndrome commonly affects individuals younger than 4 years of age.
OR
*There is no racial predilection to Blau syndrome.
 
*Blau syndrome affects men and women equally.
In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
 
OR
 
In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%.
 
 
 
Patients of all age groups may develop [disease name].
 
OR
 
The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
 
OR
 
[Disease name] commonly affects individuals younger than/older than [number of years] years of age.
 
OR
 
[Chronic disease name] is usually first diagnosed among [age group].
 
OR
 
[Acute disease name] commonly affects [age group].
 
 
 
There is no racial predilection to [disease name].
 
OR
 
[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].
 
 
 
[Disease name] affects men and women equally.
 
OR
 
[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.
 
 
 
The majority of [disease name] cases are reported in [geographical region].
 
OR
 
[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
 
==Risk Factors==
==Risk Factors==
There are no established risk factors for [disease name].
*There are no established risk factors for Blau syndrome.
 
OR
 
The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].
 
OR
 
Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].
 
OR
 
Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.
 
==Screening==
==Screening==
There is insufficient evidence to recommend routine screening for [disease/malignancy].
There is insufficient evidence to recommend routine screening for Blau syndrome.
 
OR
 
According to the [guideline name], screening for [disease name] is not recommended.
 
OR
 
According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].
 
==Natural History, Complications, and Prognosis==
==Natural History, Complications, and Prognosis==
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
Line 154: Line 82:


===Laboratory Findings===
===Laboratory Findings===
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
*An elevated concentration of serum acute phase reactants is diagnostic of Blau syndrome.
 
OR
 
Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
 
OR
 
[Test] is usually normal among patients with [disease name].
 
OR
 
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
 
OR
 
There are no diagnostic laboratory findings associated with [disease name].
 
===Electrocardiogram===
===Electrocardiogram===
There are no ECG findings associated with [disease name].
*There are no ECG findings associated with Blau syndrome.
 
OR
 
An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
===X-ray===
===X-ray===
There are no x-ray findings associated with [disease name].
*There are no x-ray findings associated with Blau syndrome.
 
OR
 
An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
 
===Echocardiography or Ultrasound===
===Echocardiography or Ultrasound===
There are no echocardiography/ultrasound findings associated with [disease name].
*There are no echocardiography/ultrasound findings associated with Blau syndrome.
 
OR
 
Echocardiography/ultrasound  may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no echocardiography/ultrasound  findings associated with [disease name]. However, an echocardiography/ultrasound  may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
 
===CT scan===
===CT scan===
There are no CT scan findings associated with [disease name].
*There are no CT scan findings associated with Blau syndrome.
 
OR
 
[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
 
===MRI===
===MRI===
There are no MRI findings associated with [disease name].
*There are no MRI findings associated with Blau syndrome.
 
OR
 
[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
 
===Other Imaging Findings===
===Other Imaging Findings===
There are no other imaging findings associated with [disease name].
*There are no other imaging findings associated with Blau syndrome.
 
OR
 
[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
===Other Diagnostic Studies===
===Other Diagnostic Studies===
There are no other diagnostic studies associated with Blau syndrome.
*There are no other diagnostic studies associated with Blau syndrome.
==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.
===Surgery===
===Surgery===
Surgical intervention is not recommended for the management of Blau syndrome.
*Surgical intervention is not recommended for the management of Blau syndrome.
===Primary Prevention===
===Primary Prevention===
There are no established measures for the primary prevention of Blau syndrome.
*There are no established measures for the primary prevention of Blau syndrome.
===Secondary Prevention===
===Secondary Prevention===
There are no established measures for the secondary prevention of Blau syndrome.
*There are no established measures for the secondary prevention of Blau syndrome.
== References ==
== References ==
{{reflist|2}}
{{reflist|2}}
[[Category:Autoinflammatory syndromes]]
[[Category:Autoinflammatory syndromes]]
[[de:Blau-Syndrom]]
[[de:Blau-Syndrom]]
[[pl:Zespół Blaua]]
[[pl:Zespół Blaua]]

Revision as of 19:23, 17 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:


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]
  • 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 [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].

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, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].

OR

Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].

OR

Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.

Diagnosis

Diagnostic Study of Choice

The diagnosis of [disease name] 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 [disease name].

History and Symptoms

The majority of patients with [disease name] are asymptomatic.

OR

The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].

Physical Examination

Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].

OR

Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

The presence of [finding(s)] on physical examination is diagnostic of [disease name].

OR

The presence of [finding(s)] on physical examination is highly suggestive of [disease name].

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

  1. ↑ Freedberg, et. al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
  2. ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
  3. ↑ 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)
  4. ↑ 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.

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