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]

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

Patients present with multiple erythematous and waxy dermal papules and plaques with a lack of scale. [the-rheumatologist.org]

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]

• Family History of Arthritis

  There was no family history of arthritis or other autoimmune conditions. At the present clinic visit, he denied joint pain, swelling, redness, and morning stiffness, and had no eye complaints. The rest of the review of the system was also negative. [hindawi.com]

  The uncle also developed granulomatous dermatitis as an adult; the father and grandfather had no history of granulomatous skin lesions. There was no family history of arthritis. Figure 1. Pedigree of this Blau syndrome kindred. [jamanetwork.com]

• Recurrent Chest Pain

  […] associated with diarrhoea and caecum-sigmoid colitis with non-necrotising granulomas. 53 Ocular manifestations were represented by a Sicca-like syndrome 53 and, in one case, ocular myositis. 55 Recurrent chest pain, pleuritis and pericarditis were also [rmdopen.bmj.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]

• 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]

• Fibrinoid Necrosis

  RESULTS: Biopsy specimens from patients with BS typically showed polycyclic granulomas with large lymphocytic coronas, extensive emperipolesis of lymphocytes within multinucleated giant cells (MGCs), MGC death, and fibrinoid necrosis and fibrosis. [ncbi.nlm.nih.gov]

• HLA-DR4

  Although HLA haplotypes do not appear to segregate with affected subjects, HLA-DR2 and HLA-DR4 subtypes may play a permissive role in phenotype expression. [ncbi.nlm.nih.gov]

• HLA-DR2

  Although HLA haplotypes do not appear to segregate with affected subjects, HLA-DR2 and HLA-DR4 subtypes may play a permissive role in phenotype expression. [ncbi.nlm.nih.gov]

• Granulomatous Arthritis

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

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

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

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

Management and treatment There is no evidence-based data on the optimal treatment of BS. [orpha.net]

Treatment Options Medical treatment includes topical corticosteroids and azithromycin for the skin rash, systemic corticosteroids, other immuosuppressants or biologics for systemic inflammation. [dermatologyadvisor.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]

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]

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]

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]

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]

Laboratory tests Other etiologies of dermatitis, arthritis, uveitis, recurrent fever, and granulomatous disease should be excluded. [eyewiki.aao.org]

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]

Etiology Pathophysiology The NOD2 protein is part of the NOD family of proteins. [dermatologyadvisor.com]

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 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]

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]

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]