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

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

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]

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]

• Inflammation

  The iridectomy specimen showed nonspecific inflammation. Systemic and topical steroid therapy partly reduced the ocular inflammation. [ncbi.nlm.nih.gov]

  Hugot et al. found a susceptibility locus for Crohn disease, a granulomatous inflammation of the bowel, on chromosome 16 close to the locus for BS. [en.wikipedia.org]

  This gene produces proteins responsible for important immune responses, including inflammation. [medicalnewstoday.com]

  Treatment should be directed toward controlling active inflammation rather than prophylaxis. [dermatologyadvisor.com]

  Skin biopsy is helpful in diagnosis because it often demonstrates granulomatous inflammation. 5 Figure 2: Histopathologic examination revealed nodular aggregates of histiocytes forming non-necrotizing, “naked” granulomas. [the-rheumatologist.org]

• Anterior Uveitis

  We report a 12-year-old girl who presented with bilateral granulomatous anterior uveitis accompanied by boggy arthritis of knee and ankle joints, intermittent fever, and nodular skin rash. [ncbi.nlm.nih.gov]

  Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and irritation of the uvea) and focal posterior synechiae (adhesion of the iris to the cornea). [rarediseases.org]

  Background Anterior uveitis occurs in association with a variety of systemic conditions. [emedicine.medscape.com]

• Arthritis

  Malleson P, Schaller JG, Dega F, Cassidy SB, and Pagon RA : Familial Arthritis and Camplodactyly. Arthritis and Rheumatism 1981; 24: 1199–1204. PMID 7306244. doi:10.1002/art.1780240915. [en.wikipedia.org]

  Rose CD, Wouters CH, Meiorin S et al (2006) Pediatric granulomatous arthritis: an international registry. Arthritis Rheum 54:3337–3344 CrossRef PubMed Google Scholar 16. [link.springer.com]

  Blau syndrome of granulomatous arthritis, iritis and skin rash: a new family and review of the literature. [medical-dictionary.thefreedictionary.com]

  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]

  Arthritis Rheum. 2013, 65: 513-518. [ped-rheum.biomedcentral.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]

  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]

  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]

  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]

• Dermatitis

  The children's symptoms started early (at 6 and 7 months of age) and included polyarthritis, dermatitis, uveitis, and fever. [ncbi.nlm.nih.gov]

  Clinically, patients most commonly present with a triad of granulomatous dermatitis, symmetric arthritis and recurrent uveitis. [the-rheumatologist.org]

  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]

• Skin Rash

  The biopsy specimen from the skin rash showed noncaseating, granulomatous infiltration with epithelioid cells and lymphocytes. The iridectomy specimen showed nonspecific inflammation. [ncbi.nlm.nih.gov]

  Pastores GM, Michels VV, Stickler GB, Su WP, Nelson AM, and Bovenmyer DA: Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. The Journal of Pediatrics 1990; 117: 403–408. [en.wikipedia.org]

  INTERPRETATIVE DATA: Incidence: Uncertain but rare Inheritance: Autosomal dominant Disease Characteristics: Blau syndrome is classically characterized by early-onset granulomatous arthritis, uveitis and skin rash with camptodactyly. [saintfrancis.com]

• Papule

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

  A 9-month-old boy developed an asymptomatic eruption of 1- to 2-mm, red-brown to pinkish tan, flat-topped papules on the face, trunk, and extremities. There was no evidence of ocular involvement or arthritis. [ncbi.nlm.nih.gov]

  Numerous red-brown to pinkish tan, flat-topped papules on the anterior trunk (A), back (B), and arm (C). [jamanetwork.com]

  Multiple, reddish-brown papules coalescing over the right arm in a boy with Blau syndrome Figure 2. [escholarship.org]

  (b) Ankle joints showing boggy polyarthritis Click here to view Figure 2: (a) Multiple discrete skin-colored papules seen over the forearm. [ijpd.in]

• Eruptions

  A 9-month-old boy developed an asymptomatic eruption of 1- to 2-mm, red-brown to pinkish tan, flat-topped papules on the face, trunk, and extremities. There was no evidence of ocular involvement or arthritis. [ncbi.nlm.nih.gov]

  The patient's cutaneous eruption faded without further therapy during the next several months, but it subsequently recurred and persisted for more than 6 months. [jamanetwork.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]

  STAT5b deficiency Modestly decreased Normal Normal Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstital pneumonitis AR Defects of STAT5B gene, impaired development and function of γδT cells, Treg and NK cells, impaired [ncbi.nlm.nih.gov]

• Suggestibility

  In contrast, the father's chromatograms revealed a small peak of adenine at the c.1001 position, suggesting the presence of a somatic NOD2 mutation. [ncbi.nlm.nih.gov]

  In the AA cohort, we also discovered a suggestive association in the TAB2 gene. [atsjournals.org]

  These data suggest a proinflammatory role for NOD2/CARD15, with CD mutations representing activating, "gain-of-function" variants. [arthritisresearch.us]

  [citation needed] Then in 1990 Pastores et al. reported a kindred with a phenotype very similar to what Blau described and suggested that the condition be called Blau Syndrome (BS). [en.wikipedia.org]

• Cranial Neuropathy

  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]

  Jabs DA, Houk JL, Bias WB et al (1985) Familial granulomatous synovitis, uveitis, and cranial neuropathies. Am J Med 78:801–804 CrossRef PubMed Google Scholar 8. [link.springer.com]

  Synonyms Arthrocutaneouveal granulomatosis ACUG Granulomatosis, familial, Blau type Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial Synovitis granulomatous with uveitis and cranial neuropathies Granulomatosis, familial juvenile [rarediseases.org]

  Since that time, the phenotype has been expanded to include fever, cranial neuropathies, cardiovascular abnormalities, and granulomas of the liver and kidney. [ncbi.nlm.nih.gov]

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

• Synovial Cyst

  Other characteristic physical findings include synovial cysts and camptodactyly. We describe a new kindred demonstrating autosomal dominant inheritance and anticipation. [ncbi.nlm.nih.gov]

  Patients can also have synovial cysts, and uveitis which can cause significant and permanent vision damage. Some patients also have inflammatory bowel disease symptoms. [nomidalliance.org]

  Pastores GM, Michels VV, Stickler GB, Su WP, Nelson AM, and Bovenmyer DA: Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. The Journal of Pediatrics 1990; 117: 403–408. [en.wikipedia.org]

  Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. J Pediatr 1990, 117:403–408. PubMed Article CAS Google Scholar 8. [link.springer.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]

  Blau EB : Familial Granulomatous Arthritis, Iritis, and Rash. The Journal of Pediatrics 1985; 107: 689-693. PMID 4056967. doi:10.1016/s0022-3476(85)80394-2. [en.wikipedia.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]

  Blau syndrome of granulomatous arthritis, iritis and skin rash: a new family and review of the literature. [medical-dictionary.thefreedictionary.com]

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

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

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]

The second part was dedicated to the aims of treatment in daily practice. Aside from general treatment, aims such as amelioration of symptoms, pre-conditions of treatment, the view of the patients, and aspects of life quality were dealt with. [books.google.com]

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]

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]

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]

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]

However, the activity of the disease may fluctuate over time. 2.10 What is the long-term prognosis (predicted outcome and course) of the disease? The available data concerning the prognosis in the long-term is limited. [printo.it]

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]

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]

Design of a case control etiologic study of sarcoidosis (ACCESS). J Clin Epidemiol 1999;52:1173–1186. Crossref, Medline, Google Scholar 7. Kang HM, Sul JH, Service SK, Zaitlen NA, Kong SY, Freimer NB, Sabatti C, Eskin E. [atsjournals.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]

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]

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

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

Zeitz Springer Science & Business Media, ٣١‏/٠٧‏/٢٠٠٣ - 252 من الصفحات The first gene responsible for Crohn's disease has now been identified and the pathophysiological understanding of inflammatory bowel disease as well as its practical treatment have [books.google.com]

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

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]

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]

We hope that early treatment may prevent development of complications of CAPS such as deafness and eye damage. [ucl.ac.uk]