{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T10:53:24Z","timestamp":1791284004047,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,10,29]],"date-time":"2019-10-29T00:00:00Z","timestamp":1572307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2019,10,29]],"date-time":"2019-10-29T00:00:00Z","timestamp":1572307200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2020,2]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Blau syndrome (\n BS<\/jats:styled-content>\n ) is a rare monogenic autoinflammatory disease caused by\n \n NOD<\/jats:styled-content>\n 2\n <\/jats:italic>\n mutations.\n BS<\/jats:styled-content>\n classically presents in early childhood as a triad of granulomatous polyarthritis, uveitis and skin involvement. Joint and ocular involvement have been characterized by several cohort studies but only very little data are available on skin lesions.\n <\/jats:p>\n <\/jats:sec>\n \n Objectives<\/jats:title>\n We aimed to provide a detailed clinical and microscopic analysis of skin manifestations and to study whether they may contribute to an early diagnosis.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We conducted a retrospective multicentre study in a French cohort of 21 patients diagnosed with genetically confirmed\n BS<\/jats:styled-content>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Skin involvement was the first clinical manifestation of\n BS<\/jats:styled-content>\n in 15\/16 patients with dermatological manifestations. The presence of skin lesions was associated with significant shorter age at diagnosis (\n P\u00a0<\/jats:italic>\n =\u00a00.03) and diagnostic delay (\n P\u00a0<\/jats:italic>\n =\n \u00a0<\/jats:italic>\n 0.04). Dermatological assessment allowed an earlier diagnosis (\n P\u00a0<\/jats:italic>\n =\n \u00a0<\/jats:italic>\n 0.001) and reduces the diagnostic delay (\n P\u00a0<\/jats:italic>\n =\n \u00a0<\/jats:italic>\n 0.007). Early skin lesions had a homogeneous, stereotypical clinical presentation, namely non\u2010confluent erythematous or pigmented millimetric papules in 13\/14(93%) patients. In contrast, skin lesions occurring during later disease stages had a more heterogeneous clinical presentation, including ichthyosiform dermatosis, panniculitis, livedoid lesions and vasculitis. Whatever their time of occurrence and the clinical aspect, all biopsied showed histologically presence of granuloma.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n Skin involvement in\n BS<\/jats:styled-content>\n is the earliest clinical manifestation of the\n BS<\/jats:styled-content>\n in the large majority of patients. The recognition of dermatological manifestations as granulomatous skin lesions and early dermatological expertise are the key to an early diagnosis of\n BS<\/jats:styled-content>\n . In view of our results, it seems reasonable to propose a simplified view of skin lesions of\n BS<\/jats:styled-content>\n in which the granuloma is the key structure.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/jdv.15963","type":"journal-article","created":{"date-parts":[[2019,9,21]],"date-time":"2019-09-21T04:20:53Z","timestamp":1569039653000},"page":"340-348","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Early\u2010onset granulomatous arthritis, uveitis and skin rash: characterization of skin involvement in Blau syndrome"],"prefix":"10.1111","volume":"34","author":[{"given":"J.","family":"Poline","sequence":"first","affiliation":[{"name":"Department of General Pediatrics Paediatric Internal Medicine, Rheumatology and Infectious Diseases National Reference Centre for Rare Paediatric Inflammatory Rheumatisms and Systemic Auto\u2010immune diseases RAISE Robert Debr\u00e9 University Hospital Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"},{"name":"INSERM UMR1149 Universit\u00e9 Paris Diderot\u2010Sorbonne Paris\u2010Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Fogel","sequence":"additional","affiliation":[{"name":"Department of Rheumatology Cochin University Hospital Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Pajot","sequence":"additional","affiliation":[{"name":"Department of Paediatric Nephrology and Internal Medicine Purpan University Hospital Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Miceli\u2010Richard","sequence":"additional","affiliation":[{"name":"Department of Rheumatology Cochin University Hospital Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Rybojad","sequence":"additional","affiliation":[{"name":"Department of Dermatology Saint Louis University Hospital Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Galeotti","sequence":"additional","affiliation":[{"name":"Department of Paediatric Rheumatology National Reference Centre for Auto\u2010inflammatory Diseases CEREMAIA Kremlin Bic\u00eatre University Hospital Assistance Publique\u2010H\u00f4pitaux de Paris Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Grouteau","sequence":"additional","affiliation":[{"name":"Department of Paediatric Emergencies Purpan University Hospital Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Hachulla","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Clinical Immunology Referral Centre for Rare Systemic and Auto\u2010immunes Diseases C. Huriez University Hospital Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Brissaud","sequence":"additional","affiliation":[{"name":"Department of Rheumatology Bichat\u2010Claude Bernard University Hospital Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Cantagrel","sequence":"additional","affiliation":[{"name":"Department of Rheumatology Purpan University Hospital Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Mazereeuw Hautier","sequence":"additional","affiliation":[{"name":"Department of Dermatology Larrey Hospital Paul Sabatier University Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Melki","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics Paediatric Internal Medicine, Rheumatology and Infectious Diseases National Reference Centre for Rare Paediatric Inflammatory Rheumatisms and Systemic Auto\u2010immune diseases RAISE Robert Debr\u00e9 University Hospital Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Petit","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology Assistance Publique\u2010H\u00f4pitaux de Paris GH HUEP Armand Trousseau Hospital Paris France"},{"name":"UMRS_938 CDR Saint\u2010Antoine Sorbonne Universit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Piram","sequence":"additional","affiliation":[{"name":"Department of Paediatric Rheumatology National Reference Centre for Auto\u2010inflammatory Diseases CEREMAIA Kremlin Bic\u00eatre University Hospital Assistance Publique\u2010H\u00f4pitaux de Paris Kremlin Bic\u00eatre 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