Blau syndrome

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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

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

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

• 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.
• 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.