{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T11:29:13Z","timestamp":1775129353271,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,7,16]],"date-time":"2025-07-16T00:00:00Z","timestamp":1752624000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Blau syndrome is a rare, autosomal dominant granulomatous disease caused by mutations in the <jats:italic>NOD2\/CARD15<\/jats:italic> gene. While the classic triad of arthritis, dermatitis, and uveitis is well known, the full range of cutaneous manifestations remains underexplored.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To expand the understanding of cutaneous findings in Blau syndrome, correlate these findings with <jats:italic>NOD2<\/jats:italic> variants, and evaluate treatment outcomes across organ systems.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective review of medical records from January 1999 to January 2024 identified 14 patients with Blau syndrome supported by the presence of <jats:italic>NOD2<\/jats:italic> variants. Clinical data on dermatological features, genetics, and treatment responses were analyzed and categorized into specific and non\u2010specific cutaneous findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the 14 patients with Blau syndrome, 85% (12\/14) demonstrated skin involvement. Specific findings included lichenoid or granulomatous papules and nodules (50%, 6\/12), while non\u2010specific findings (83%, 10\/12) were more diverse, including dermatitis (6\/10), chronic urticaria (5\/10), ichthyosiform eruptions (4\/10), vasospastic disorders (5\/10), and oral\/genital ulcers (2\/10). Skin biopsies in three patients with specific findings revealed non\u2010caseating granulomas. Genetic analysis identified multiple <jats:italic>NOD2<\/jats:italic> variants, though no clear genotype\u2013phenotype correlation was observed. TNF\u2010alpha inhibitors demonstrated efficacy in controlling ocular and joint disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Blau syndrome presents with a broader spectrum of cutaneous findings than previously recognized. These findings highlight the importance of dermatological evaluation and a multidisciplinary approach to optimize diagnosis and management.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pde.15994","type":"journal-article","created":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T04:25:01Z","timestamp":1752726301000},"page":"956-960","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Expanding the Cutaneous Presentation of Blau Syndrome, Response to Treatment, and Correlation With Genetics"],"prefix":"10.1111","volume":"42","author":[{"given":"Nessa Aghazadeh","family":"Mohandesi","sequence":"first","affiliation":[{"name":"Department of Dermatology Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Pediatric and Adolescent Medicine Mayo Clinic Children's  Rochester Minnesota USA"},{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-6381-6574","authenticated-orcid":false,"given":"Setu","family":"Mittal","sequence":"additional","affiliation":[{"name":"Department of Dermatology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3720-2402","authenticated-orcid":false,"given":"Amir B.","family":"Orandi","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine Mayo Clinic Children's  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy M.","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nila S.","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester 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