It is also likely that in the absence of appropriate treatment early the disease had evolved and the typical boggy arthritis and rash were not present at the time of presentation. [journals.lww.com]

All these children had presented before 4 years of age (17). History of early-onset rash was present in eight (72.7%) patients in our cohort, similar to published literature (18), however, it was not persistent. [frontiersin.org]

We present the case of a 7-year-old girl with co-existing symptoms of two rare diseases, Blau syndrome and NAID. [ncbi.nlm.nih.gov]

Eye involvement, such as uveitis and/or iritis is the most damaging affect of Blau, and symptoms can present in early childhood to early adulthood. [nomidalliance.org]

His presentation in the beginning consisted of symmetric arthritis involving fingers and wrists. [hindawi.com]

• Eczema

  “When we took her in to see her primary care physician, he said it was eczema.” However, Makenna’s parents were not convinced by the doctor’s hasty diagnosis, so they consulted a dermatologist to get a biopsy. [childrensinn.org]

  […] have these symptoms is not available through HPO Abnormal cranial nerve morphology 0001291 Abnormality of the ear 0000598 Arthritis Joint inflammation 0001369 Autosomal dominant inheritance 0000006 Band keratopathy 0000585 Cystoid macular edema 0011505 Eczema [rarediseases.info.nih.gov]

  Other times, a common skin condition such as psoriasis (pictured) or eczema might affect a person's appearance. But some folks have health conditions that result in permanently atypical skin. [cbsnews.com]

  This began at 2.5 years of age and was initially diagnosed as eczema, but failed to respond to topical steroid therapy. [escholarship.org]

• Swelling of the Dorsum of a Hand

  At the age of 3 years, the patient visited our unit with swelling of the dorsum of the hands (Figure 3). Physical examination revealed swelling, pain, limitation of movement, and increased warmth in both hands, but no rash. [hindawi.com]

• Arthralgia

  Showing of 55 | 80%-99% of people have these symptoms Arthralgia Joint pain 0002829 Erythema 0010783 Hyperpigmentation of the skin Patchy darkened skin 0000953 Iridocyclitis 0001094 Joint swelling 0001386 Keratitis Corneal inflammation 0000491 Limitation [rarediseases.info.nih.gov]

  Gender (female:male) 13:9 Mean age at diagnosis 40.1 years (range 17-72) Mean disease duration 4.7 years (range 1-13) Ethnicity (white) 22/22 (100%) Familial 3/22 (13.6%) Weight loss 13/22 (59.1%) Fever 13/22 (59.1%) Skin disease 19/22 (86.4%) Arthritis/arthralgia [clevelandclinicmeded.com]

  Joint pains There are often joint pains (arthralgias or arthritides), but generally NO tissue and cartilage changes can be seen on X rays. [autoinflammatory.org]

  Affiliated tissues include eye, skin and kidney, and related phenotypes are arthralgia and joint swelling Disease Ontology : 12 A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. [malacards.org]

During the diagnostic workup, he had worsening of ocular complaints, retinal exam showed panuveitis with multifocal choroiditis. [hindawi.com]

• Granulomatous Arthritis

  ARTHROCUTANEOUVEAL GRANULOMATOSIS Jabs syndrome Granulomatous arthritis of childhood Synovitis granulomatous with uveitis and cranial neuropathies Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial ACUG Pediatric Granulomatous Arthritis [wikidata.org]

  Many prefer the term, pediatric granulomatous arthritis and uveitis to the name, Blau [15]. [link.springer.com]

  Patients with sporadic early-onset granulomatous arthritis are clinically identical to Blau syndrome, but without the family history. [ncbi.nlm.nih.gov]

  arthritis, iritis, and rash. [genome.jp]

  We investigated the hypothesis that an individual with sporadic early onset granulomatous arthritis may have a Blau syndrome mutation in CARD15/NOD2. [jrheum.org]

Four months after treatment commenced, we detected symmetrical arthritis of both wrists and ankles. We discontinued the initial treatment and began etanercept treatment. [hindawi.com]

Ocular disease remained persistently active despite treatment with multiple different immunosuppressants; therefore, canakinumab treatment was started. [ncbi.nlm.nih.gov]

None of the patients who became blind received biologic treatment. Conclusions In patients with Blau syndrome, severe joint contractures and blindness may occur if diagnosis and appropriate treatment are delayed. [ard.bmj.com]

Treatment Medical Therapy There is no treatment for Blau syndrome; the mainstay of therapy is supportive care.[12] Treatment options for mild clinical phenotype include: Topical steroid drops NSAIDs Methotrexate Treatment options for severe clinical phenotype [wikidoc.org]

Early treatment with a biologic agent may improve the prognosis. sarcoidosis inflammation early rheumatoid arthritis Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will [ard.bmj.com]

At follow up at 20 years of age (after 2-5 years of infliximab treatment) the twins had an almost normal physical appearance and a normal psychomotoric development, indicating a favourable short-term prognosis of the disease. [ncbi.nlm.nih.gov]

Prognosis BS is a chronic and progressive disease with a variable and often unpredictable spectrum of severity. In cases with expanded manifestations, life expectancy may be reduced. Uveitis has a poor prognosis. [orpha.net]

Prognosis is generally poor if left untreated. Diagnosis Diagnostic Study of Choice There are no established criteria for the diagnosis of Blau syndrome. [wikidoc.org]

NOD2/CARD15 genotyping before transplantation may contribute to prognosis and influence clinical management. [ PMID 18756601 ] No association was found for NOD2/CARD15 SNPs (R702W, G908R) in Chinese patients with inflammatory bowel disease. [snpedia.com]

Consistent with the autoinflammatory etiology of Blau syndrome, intermittent fevers are frequently reported.[16] Less commonly, patients may develop symptoms that reflect granulomatous infiltration of visceral organs or vasculature. [eyewiki.aao.org]

The aim of this study was to assess the efficacy of thalidomide in patients with severe EOS, based on etiology supporting an initial role of NF-kappaB in activation of this disease. [ncbi.nlm.nih.gov]

Etiology BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. [orpha.net]

These findings indicate that the majority of EOS and BS cases share the common genetic etiology of CARD15 mutations that cause constitutive NF-κB activation. Submitted August 2, 2004. Accepted September 27, 2004. [bloodjournal.org]

Summary Epidemiology Exact prevalence is unknown. [orpha.net]

Epidemiology and Demographics The prevalence of Blau syndrome has been reported less than 0.1 per 100,000 individuals worldwide.[5] Blau syndrome commonly affects individuals younger than 4 years of age. [wikidoc.org]

Epidemiology: Blau syndrome is a very rare disease. [eyewiki.aao.org]

A review of epidemiology, pathophysiology, and therapeutic implications, Inflammatory Bowel Diseases, 10, 6, (848-859), (2006). [doi.org]

Previous epidemiologic studies have shown that mutations in the NOD2/CARD15 gene are extremely rare outside the white population. 8 Second, our observed rates of GVHD were also lower than earlier studies, which may reflect our exclusion of any donor-recipient [bloodjournal.org]

Signaling protein and cytokine expression were examined, and the results of these experiments challenge current theories of constitutive NOD2 activation in the pathophysiology of Blau syndrome. [ncbi.nlm.nih.gov]

Even though specific treatment based on pathophysiologic mechanism has not been explored yet, early diagnosis will prevent the progression to severe impairment, which can severely affect patients' lives. [jstage.jst.go.jp]

A review of epidemiology, pathophysiology, and therapeutic implications, Inflammatory Bowel Diseases, 10, 6, (848-859), (2006). [doi.org]

Pathophysiology The exact pathogenesis of Blau syndrome is not fully understood. However, it is caused by a NATCH domain of the NOD2 / CARD15 gene.[3] The disease is inherited in an autosomal dominant mode. [wikidoc.org]

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 ↑ Blau, Edward B. (1985). [wikidoc.org]

There is no established therapy for the management of BS and EOS, and the main treatment aim is to prevent ocular manifestations entailing the risk of potential blindness and to avoid joint deformities. [ncbi.nlm.nih.gov]

Primary prevention While there are currently no preventative measures available, genetic counseling is beneficial for families with a known history of Blau syndrome. [eyewiki.aao.org]

Even though specific treatment based on pathophysiologic mechanism has not been explored yet, early diagnosis will prevent the progression to severe impairment, which can severely affect patients' lives. [jstage.jst.go.jp]

TSL:1 NOD2-210 ENST00000534067.5 602 60aa ENSP00000463145 - J3QL80 - 5' truncation in transcript evidence prevents annotation of the start of the CDS. [ensembl.org]