{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T13:53:53Z","timestamp":1772632433555,"version":"3.50.1"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T00:00:00Z","timestamp":1772582400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>We report a rare case of Blau syndrome in a 1-year-old boy. The patient presented with characteristic facial manifestations, notably skin lesions exhibiting atrophoderma vermiculates-like appearance; ocular and articular symptoms were notably absent at presentation. Histopathological examination confirmed non-caseating granulomatous inflammatory changes. Whole-genome sequencing (WGS) identified a heterozygous pathogenic mutation (p. Arg307Trp) in the nucleotide oligomerization domain 2 (NOD2) gene. Treatment with oral prednisone combined with topical vitamin E application resulted in a significant improvement of his skin lesions.<\/jats:p>","DOI":"10.3389\/fimmu.2026.1759464","type":"journal-article","created":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T07:01:42Z","timestamp":1772607702000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Blau syndrome with atrophoderma vermiculata-like appearance: a case report"],"prefix":"10.3389","volume":"17","author":[{"given":"Jingwei","family":"Zheng","sequence":"first","affiliation":[{"name":"Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College","place":["Nanjing, China"]},{"name":"Department of Pathology, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College","place":["Nanjing, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianfang","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pathology, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College","place":["Nanjing, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,3,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s00431-023-05204-9","article-title":"Management of Blau syndrome: review and proposal of a treatment algorithm","volume":"183","author":"Lassoued Ferjani","year":"2024","journal-title":"Eur J Pediatr"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1111\/pde.16001","article-title":"Blau syndrome (Juvenile systemic granulomatosis): state-of-the-art review","volume":"42","author":"Wang","year":"2025","journal-title":"Pediatr Dermatol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1007\/s12105-025-01766-2","article-title":"Langerhans cell histiocytosis and other histiocytic lesions","volume":"19","author":"McKinney","year":"2025","journal-title":"Head Neck Pathol"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2001.04397.x","article-title":"A clinical and therapeutic study of 29 patients with infantile acne","volume":"145","author":"Cunliffe","year":"2001","journal-title":"Br J Dermatol"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.4103\/idoj.idoj_513_22","article-title":"Dermoscopic features of atrophoderma vermiculatum; 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