{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T04:56:00Z","timestamp":1790571360567,"version":"4.1.0"},"reference-count":4,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T00:00:00Z","timestamp":1776729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T00:00:00Z","timestamp":1776729600000},"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":["Pediatric Dermatology"],"published-print":{"date-parts":[[2026,9]]},"abstract":"ABSTRACT<\/jats:title>\n \n Neonatal inflammatory skin and bowel isease type 1 (NISBD1) is a rare autosomal recessive genodermatosis caused by pathogenic variants in\u2009\n ADAM17<\/jats:italic>\n , a gene essential for epithelial development and cytokine regulation. Affected individuals typically present during infancy with severe cutaneous inflammation, recurrent infections, fragile hair, and variable gastrointestinal involvement. We report a 4\u2010year\u2010old girl with an unusual constellation of mucocutaneous manifestations associated with a novel homozygous\u2009\n ADAM17<\/jats:italic>\n \u2009mutation (c.436G>A; p.Gln146Lys), thereby expanding the known phenotypic spectrum of NISBD1. This case highlights atypical NISBD1 features, including pyoderma gangrenosum\u2010like ulcerations, pyostomatitis\u2010like mucosal involvement, annular atrophic scarring, and absence of bowel disease.\n <\/jats:p>","DOI":"10.1111\/pde.70235","type":"journal-article","created":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T05:56:44Z","timestamp":1776837404000},"page":"1209-1211","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Unusual Cutaneous and Mucosal Manifestations of Neonatal Inflammatory Skin and Bowel Disease Type 1 due to a Novel Homozygous\n ADAM17<\/i>\n Mutation"],"prefix":"10.1111","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-9589-0308","authenticated-orcid":false,"given":"Kittu","family":"Malhi","sequence":"first","affiliation":[{"name":"Department of Dermatology, Venereology and Leprology Post Graduate Institute of Medical Education and Research Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2526-4494","authenticated-orcid":false,"given":"Sukhdeep","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprology Post Graduate Institute of Medical Education and Research Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8490-5584","authenticated-orcid":false,"given":"Pandiarajan","family":"Vignesh","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Post Graduate Institute of Medical Education and Research Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5414-2598","authenticated-orcid":false,"given":"Debajyoti","family":"Chatterjee","sequence":"additional","affiliation":[{"name":"Department of Histopathology Post Graduate Institute of Medical Education and Research Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4320-3193","authenticated-orcid":false,"given":"Rahul","family":"Mahajan","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprology Post Graduate Institute of Medical Education and Research Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,21]]},"reference":[{"key":"e_1_2_1_6_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1100721"},{"key":"e_1_2_1_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.20978"},{"key":"e_1_2_1_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2015.02.010"},{"key":"e_1_2_1_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-89063-0"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.70235","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.70235","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.70235","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T04:24:50Z","timestamp":1790569490000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.70235"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,21]]},"references-count":4,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1111\/pde.70235"],"URL":"https:\/\/doi.org\/10.1111\/pde.70235","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,21]]},"assertion":[{"value":"2025-05-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}