Blau syndrome

WikiDoc Resources for Blau syndrome
Articles
Most recent articles on Blau syndrome Most cited articles on Blau syndrome Review articles on Blau syndrome Articles on Blau syndrome in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Blau syndrome Images of Blau syndrome Photos of Blau syndrome Podcasts & MP3s on Blau syndrome Videos on Blau syndrome
Evidence Based Medicine
Cochrane Collaboration on Blau syndrome Bandolier on Blau syndrome TRIP on Blau syndrome
Clinical Trials
Ongoing Trials on Blau syndrome at Clinical Trials.gov Trial results on Blau syndrome Clinical Trials on Blau syndrome at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Blau syndrome NICE Guidance on Blau syndrome NHS PRODIGY Guidance FDA on Blau syndrome CDC on Blau syndrome
Books
Books on Blau syndrome
News
Blau syndrome in the news Be alerted to news on Blau syndrome News trends on Blau syndrome
Commentary
Blogs on Blau syndrome
Definitions
Definitions of Blau syndrome
Patient Resources / Community
Patient resources on Blau syndrome Discussion groups on Blau syndrome Patient Handouts on Blau syndrome Directions to Hospitals Treating Blau syndrome Risk calculators and risk factors for Blau syndrome
Healthcare Provider Resources
Symptoms of Blau syndrome Causes & Risk Factors for Blau syndrome Diagnostic studies for Blau syndrome Treatment of Blau syndrome
Continuing Medical Education (CME)
CME Programs on Blau syndrome
International
Blau syndrome en Espanol Blau syndrome en Francais
Business
Blau syndrome in the Marketplace Patents on Blau syndrome
Experimental / Informatics
List of terms related to Blau syndrome

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

Coarse facial features in a boy with Blau syndrome, Image courtesy of Donald A Glass II MD, PhD, Jennifer Maender MD, Denise Metry M

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. Restated, Blau syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies and exanthema.

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.
• Jabs Syndrome was introduced in the same year (1985) by Dr. A. Douglas Jabs following visiting patients with polyarthritis, uveitis, and cranial neuropathy.
• 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

• The prevalence of Blau syndrome has been reported less than 0.1 per 100,000 individuals worldwide.
• 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..
• Other possible complications include:
  • Arterial hypertension
  • Pulmonary embolism
• 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.
• 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

Multiple, reddish-brown papules coalescing over the right arm in a boy with Blau syndrome, Image courtesy of Donald A Glass II MD, PhD, Jennifer Maender MD, Denise Metry M

• Common physical examination findings of Blau syndrome include fever, scaly rash, and arthritis.
• Other possible findings include:
  • Cranial nerve involvement
  • Lymphadenopathy
  • Hepatosplenomegaly
  • Uveitis
  • Conjunctivitis
  • Cataracts
  • Panniculitis

Laboratory Findings=

• Common laboratory findings of Blau syndrome include:
  • 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.
• 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.
• For more information on echocardiography finding of pericarditis please click here

CT scan

• CT scan findings may be helpful in the diagnosis of conditions associated with Blau syndrome. It may indicate:
  • Mild upper mediastinal with hilar adenopathy. Unexpectedly several small areas of ground glass opacity were noted in the medial segment of the right middle lobe and bilateral lower lobes of the lung parenchyma

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.
• 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.