{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,18]],"date-time":"2025-01-18T05:12:06Z","timestamp":1737177126824,"version":"3.33.0"},"reference-count":5,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T00:00:00Z","timestamp":1720051200000},"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":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Restrictive dermopathy is a lethal autosomal recessive disease characterized by tightly adherent skin, distinctive facial dysmorphisms, arthrogryposis, and pulmonary hypoplasia. While clinical findings are unique, histopathology and genetic analysis are critical for early diagnostic confirmation and to initiate appropriate management for this lethal disease. We report on a preterm Hutterite male neonate with biallelic <jats:italic>ZMPSTE24<\/jats:italic> mutations to highlight the clinical and histopathological features of restrictive dermopathy and share our skin\u2010directed management strategies.<\/jats:p>","DOI":"10.1111\/pde.15681","type":"journal-article","created":{"date-parts":[[2024,7,5]],"date-time":"2024-07-05T06:44:13Z","timestamp":1720161853000},"page":"942-944","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin\u2010directed management"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-5672-0160","authenticated-orcid":false,"given":"Jesse","family":"Grist","sequence":"first","affiliation":[{"name":"Division of Pediatric Medicine, Department of Pediatrics University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Green","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Medicine University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abhay","family":"Lodha","sequence":"additional","affiliation":[{"name":"Division of Pediatric Medicine, Department of Pediatrics University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlene","family":"Hunter","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Lach","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thuy","family":"Phung","sequence":"additional","affiliation":[{"name":"Department of Pathology University of South Alabama  Mobile Alabama USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renee","family":"Perrier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Ramien","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Division of Community Pediatrics, Department of Pediatrics University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,7,4]]},"reference":[{"key":"e_1_2_2_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2022.09.033"},{"key":"e_1_2_2_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi159"},{"journal-title":"Am J Med Genet A","article-title":"A shared founder mutation underlies restrictive dermopathy in old colony (Dutch\u2010German) Mennonite and Hutterite patients in North America","author":"Loucks C","key":"e_1_2_2_4_1"},{"key":"e_1_2_2_5_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555\u20102970"},{"key":"e_1_2_2_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2022.146582"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15681","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T12:14:40Z","timestamp":1737116080000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15681"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,4]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1111\/pde.15681"],"URL":"https:\/\/doi.org\/10.1111\/pde.15681","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2024,7,4]]},"assertion":[{"value":"2024-01-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-04","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}