{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T14:51:15Z","timestamp":1771512675645,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,12,7]],"date-time":"2024-12-07T00:00:00Z","timestamp":1733529600000},"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":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is a rare genetic disorder that can arise due to mutations in the desmoglein 1 (<jats:italic>DSG1<\/jats:italic>) gene and sometimes in the desmoplakin (<jats:italic>DSP<\/jats:italic>) gene and is characterized by an autosomal recessive inheritance pattern. Severe dermatitis in most cases is treatment resistant and usually starts in the early postnatal period. Herein, we report a 5\u2010month\u2010old male with SAM syndrome that had a homozygous missense variant in exon 8 of the <jats:italic>DSG1<\/jats:italic> gene with c.909G&gt;C (p.Trp303Cys) and presented with pulmonary stenosis\u2014a rare associated finding.<\/jats:p>","DOI":"10.1111\/pde.15811","type":"journal-article","created":{"date-parts":[[2024,12,7]],"date-time":"2024-12-07T10:26:20Z","timestamp":1733567180000},"page":"584-590","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<scp>SAM<\/scp> Syndrome Presenting With Pulmonary Stenosis: A\u00a0Case Report and Literature Review"],"prefix":"10.1111","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-3438-8844","authenticated-orcid":false,"given":"Batuhan Kerem","family":"Balan","sequence":"first","affiliation":[{"name":"School of Medicine, Department of Dermatology and Venereology Hacettepe University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sibel","family":"Ersoy\u2010Evans","sequence":"additional","affiliation":[{"name":"School of Medicine, Department of Dermatology and Venereology Hacettepe University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emel","family":"Is\u0131yel","sequence":"additional","affiliation":[{"name":"School of Medicine, Department of Pediatrics Hacettepe University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dursun","family":"Alehan","sequence":"additional","affiliation":[{"name":"School of Medicine, Department of Pediatric Cardiology Hacettepe University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,12,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1684\/ejd.2021.4012"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2739"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.05.002"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.14925"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1089\/derm.2023.0222"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14129"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.19684"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.17752"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.19185"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13247"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14079"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.13967"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.13551"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/ced\/llae026"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI144363"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2018.04.007"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15811","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T06:45:28Z","timestamp":1751525128000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15811"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,7]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1111\/pde.15811"],"URL":"https:\/\/doi.org\/10.1111\/pde.15811","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,7]]},"assertion":[{"value":"2024-08-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}