Blau syndrome is a rare granulomatous disorder inherited in an autosomal dominant manner characterized by the early appearance of granulomatous arthritis, skin rash and anterior uveitis. Blau syndrome, granulomatous diseases, nod2, rip2 kinase. The primary mission of aaces medical journals is to enhance the health care of patients with endocrine diseases through continuing education of practicing endocrinologists. Although rare, blau syndrome is a potentially lifethreatening illness that should be considered in the differential diagnosis of childhood uveitis and for patients who have the clinical characteristics of irvan. The initial symptoms of blau syndrome usually include polyarthritis and rash followed by uveitis. Pdf we present a case of systemic granulomatous disorderblau syndrome.
At present, there is no evidence for an effective treatment for all patients with blau. Patients suffer from a combination of skin rash, arthritis and uveitis. Role of the nod2 genotype in the clinical phenotype of. On initial presentation, the patients visual acuity was 20800 od and 2020 os with a right afferent pupillary defect. Diagnosis and treatment of blau syndromeearlyonset. Laboratory testing for genetic mutation for blau syndrome was done and came back positive. A new mutation in blau syndrome pubmed central pmc. Pdf blau syndrome, the prototypic autoinflammatory. A new mutation in blau syndrome europe pmc article europe pmc. Intractable leg ulcers in blau syndrome kamio 2016 the. Other organs may be affected and intermittent fever may be present as well. Blau syndrome earlyonset sarcoidosis, eos granulomatous dermatitis, uveitis symmetric polyarthritis autoinflammatory diseases with skin and bone involvement deficiency of il1 receptor antagonist dira pustular psoriasiform rash multifocal periostitis, osteomyelitis majeed syndrome neutrophilic inflammatory dermatosis.
Aysenur pac kisaarslan, betul sozeri, nihal sahin, sumeyra ozdemir cicek, zubeyde gunduz, erkan demirkaya, afig berdeli, serdal sadet ozcan, hakan porazoglu, ruhan dusunsel. Blau syndrome is related to mutations located at the 16q12. View enhanced pdf access article on wiley online library. There are very few data on the cardiovascular manifestations of blau syndrome. American journal of ophthalmology case reports elsevier. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Pdf blau syndrome is a monogenic disease resulting from mutations in the pattern recognition receptor nod2, and is phenotypically characterized by the. Diagnosis and treatment of blau syndromeearlyonset sarcoidosis, an autoinflammatory granulomatous disease, in an infant. He saw 014 ishihara color plates with his right eye and with his left.
Sporadic earlyonset sarcoidosis shows the same clinical triad with nod2 mutations and are considered the same disease as blau syndrome. Mar 01, 2020 blau syndrome and earlyonset sarcoidosis. Blau syndrome and earlyonset sarcoidosis represent familial and sporadic forms of pediatric granulomatous autoinflammatory disease caused by. Pdf on sep 14, 2011, carl ei janssen and others published emperipolesis and cell death in nod2related blau syndrome and crohns disease find, read and cite all the research you need on. Although blau syndrome is an ad inherited disease, the parents of the patient were healthy. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern.
Here we report the first case of sinus of valsava aneurysm in blau syndrome. A patient was seen at our clinic with a diagnosis of juvenile idiopathic arthritis jia. Blau syndrome patients showed moderatesevere visual impairment in and functional impact in 12. To date, 11 nod2 gene mutations causing blau syndrome have been described. Blau has been strongly associated with mutations in the nod2 gene nucleotidebinding oligomerization domaincontaining protein 2, a member of the nodlike receptor family involved in innate immunity. Tumor necrosis factor inhibitors provide longterm clinical. Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. Blau syndrome show sarcoidtype granuloma with characteristic skin, eye and joint involvement, but without hilar lymphadenopathy.
The disease was first described in 1985 by the paediatrician edward blau as a dominantly inherited, chronic inflammatory syndrome characterised by the clinical triad of granulomatous dermatitis, symmetric arthritis and recurrent uveitis with onset below 4. Case report open access sinus of valsalva aneurysm in blau s. Blau syndrome, the prototypic autoinflammatory granulomatous. Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. Apr 18, 2020 blau syndrome and earlyonset sarcoidosis represent familial and sporadic forms of pediatric granulomatous autoinflammatory disease caused by mutations in the nod2 gene. Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Although controlling ocular and articular involvements are. Others, such as interferonmediated autoinflammatory. Retinal vasculitis, aneurysms, and neovascularization in blau.
His initial treatment consisted of nonsteroidal antiinflammatory nsaids, later on methotrexate was added. Blau syndrome bs is a rare familial disease transmitted as an autosomal dominant trait, characterized by arthritis, uveitis, skin rash and granulomatous inflammation. Blau syndrome is a monogenic disease resulting from mutations in the pattern recognition receptor nod2, and is phenotypically characterized by the triad of granulomatous polyarthritis, dermatitis and uveitis. Blau syndrome, a rare autosomal dominant disorder, presents in early childhood with granulomatous arthritis, dermatitis, and uveitis 1. A family history of uveitis supported a diagnosis of blau syndrome, and analysis. Mar 26, 2010 blau syndrome is a rare granulomatous disorder inherited in an autosomal dominant manner characterized by the early appearance of granulomatous arthritis, skin rash and anterior uveitis. Blau syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin. Radiological features of blau arthritis include postinflammatory and previously undescribed morphological bony changes. Multiple or eruptive syringomas are associated with down syndrome, marfan syndrome, ehlersdanlos syndrome, and blau syndrome. Mar 18, 2020 specific aig is linked to blau syndrome with nod2 mutations. The spectrum of systemic autoinflammatory disorders broadens continually. Welcome to the aace journals website, the site for both endocrine practice ep and aace clinical case reports accr.
Blau syndrome bs is a dominant inherited autoinflammatory disease caused by gainoffunction nod2 mutations and charac. A novel mutation in helical domain 2 of nod2 in sporadic blau. P05 adalimumab treatment of refractory blau syndrome. Enable javascript to view the expandcollapse boxes. Familial bs and its sporadic variant earlyonset sarcoidosis eos consist of a triad of dermatitis, arthritis, and uveitis. A 6yearold white boy presented to our office for evaluation after failing 3 school vision screenings. Blau has been strongly associated with mutations in the nod2 gene nucleotidebinding oligomerization domain containing protein 2 2, a. List of general autoinflammatoryperiodic fever syndrome. To the editor blau syndrome, a rare autosomal dominant disorder, presents in early childhood with granulomatous arthritis, dermatitis, and uveitis. It presents with a classic phenotypic triad of granulomatous polyarthritis, uveitis and dermatitis. Role of nod2 pathway genes in sarcoidosis cases with clinical. Skin inflammation associated with arthritis, synovitis and. Diagnosis and treatment of blau syndromeearlyonset sarcoidosis.
The condition manifested as a generalized papulous rash, recurrent arthritis, and tenosynovitis, which started when he was 2 years old. A case of blau syndrome hindawi publishing corporation. Blau syndrome is a rare inflammatory disorder that primarily affects the skin, joints, and eyes. In addition, various clinical manifestations beyond the classic clinical triad have been reported in patients with blau syndrome2,3,4. Some of the conditions that have been described fit neatly into a conventional idea of autoinflammation. He was diagnosed with polyarticular jia when he was two years old, at that time primary manifestations included inflammation of the hand and wrist joints bilaterally, later he developed ocular symptoms, which were attributed to jia. Kf and jb were involved in manuscript editing, and provided. Sinus of valsalva aneurysm in blaus syndrome journal of. Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis. Download pdf main blau syndrome bs, mim 186580 is a rare autosomal dominant disorder characterized by earlyonset granulomatous arthritis, uveitis and skin rash with camptodactyly 1. Blau syndrome omim 186580 is a rare, autosomal dominant ad, and granulomatous autoinflammatory disease first described by blau in 1985 1, 2.
Blau syndrome is the term used for familial forms of the disease but sporadic forms can occur as well and are known as early onset sarcoidosis eos. Diagnosis and treatment of blau syndrome earlyonset sarcoidosis, an autoinflammatory granulomatous disease, in an infant. Blau syndrome bs is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad of granulomatous recurrent uveitis, dermatitis and symmetric arthritis. In part, this is due to the more widespread application of massive parallel sequencing, helping with novel gene discovery in this and other areas of rare diseases. We present a case of systemic granulomatous disorder blau syndrome. Although rare, blau syndrome shares features with the more common diseases sarcoidosis and crohns disease. An approach to the patient with a periodic fever syndrome covers fmf, traps, hids, caps, dira, papa, blau, pfapa, and schnitzelers. Treatment has included the usual anti inflammatory drugs such as adrenal glucocorticoids, antimetabolites and also biological. Treatment of hereditary autoinflammatory diseases videopowerpoint presentation of treatment options and results. Pdf emperipolesis and cell death in nod2related blau. Early diagnosis and treatment of blau syndrome are essential in maintaining systemic wellbeing and the best visual prognosis. Blau syndrome bs is a dominant inherited autoinflammatory disease caused by gainoffunction nod2 mutations and characterized by the triad of granulomatous arthritis, dermatitis, and uveitis. Blau syndrome is an autoinflammatory disease caused by mutations in the nod2 gene1. Blau syndrome is a monogenic autoinflammatory condition of early childhood resulting from mutations in the gene for pattern recognition receptor nod2 chromosomal region 16q12.