{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T09:16:35Z","timestamp":1789463795316,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:00:00Z","timestamp":1789430400000},"content-version":"vor","delay-in-days":257,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"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":["Case Reports in Dermatological Medicine"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Goltz syndrome, also known as focal dermal hypoplasia (FDH), is a rare X\u2010linked dominant genetic disorder caused by loss\u2010of\u2010function mutations in the\n                    <jats:italic>PORCN<\/jats:italic>\n                    gene, which is crucial for Wnt protein secretion and signaling during embryonic development. The syndrome primarily affects females, as hemizygous males with pathogenic variants in the gene typically die in utero, while surviving males are usually mosaic for the variant. Patients typically present with diverse phenotypic features, including dermal hypoplasia, musculoskeletal abnormalities, ocular malformations, and dental defects, often distributed asymmetrically along Blaschko\u2019s lines. Despite the identification of the\n                    <jats:italic>PORCN<\/jats:italic>\n                    gene as the main gene involved in the pathogenesis of the disease, a significant gap remains in understanding the broad spectrum of\n                    <jats:italic>PORCN<\/jats:italic>\n                    mutations and the resulting variability in clinical presentation among Goltz syndrome patients, particularly concerning the factors that contribute to the differences in disease severity and expression. This study reports a 9\u2010year\u2010old male patient presenting with non\u2010healing skin lesions, syndactyly, limb length discrepancy, and scoliosis, consistent with clinical findings of Goltz syndrome. Whole\u2010exome sequencing identified a hemizygous nonsense variant in the\n                    <jats:italic>PORCN<\/jats:italic>\n                    gene (c.915G\u2009&gt;\u2009A), resulting in a truncated protein (p.Trp305Ter). This nucleotide\u2010level variant is distinct from, but affects the same residue as, a previously reported pathogenic variant reported by Lasocki et al., further supporting the clinical relevance of truncating changes at this codon and providing insight into the mosaicism associated with milder male phenotypes.\n                  <\/jats:p>","DOI":"10.1155\/crdm\/1302419","type":"journal-article","created":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T08:13:57Z","timestamp":1789460037000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Male Goltz Syndrome due to Postzygotic\n                    <i>PORCN<\/i>\n                    Mosaicism: A Case Report"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-1785-9353","authenticated-orcid":false,"given":"Vu Anh Dao","family":"Tran","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5214-5664","authenticated-orcid":false,"given":"Mohammed","family":"Eldoadoa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2147-7505","authenticated-orcid":false,"given":"Tong Ba","family":"Tran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3976-9963","authenticated-orcid":false,"given":"Nhi Thi","family":"Uyen Pham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1215-087X","authenticated-orcid":false,"given":"Lam D.","family":"Chau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2011-8092","authenticated-orcid":false,"given":"Abdelrahman M.","family":"Makram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9543-9440","authenticated-orcid":false,"given":"Nguyen Tien","family":"Huy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thuy Thi","family":"Phan Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5811-9907","authenticated-orcid":false,"given":"Randa","family":"Elsheikh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,15]]},"reference":[{"key":"e_1_2_11_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.40"},{"key":"e_1_2_11_2_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1962.01590120006002"},{"key":"e_1_2_11_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.1783"},{"key":"e_1_2_11_4_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-02068-w"},{"key":"e_1_2_11_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-020-0089-z"},{"key":"e_1_2_11_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12031"},{"key":"e_1_2_11_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31473"},{"key":"e_1_2_11_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37974"},{"key":"e_1_2_11_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.068403"},{"key":"e_1_2_11_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.135"},{"key":"e_1_2_11_11_2","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/728509"},{"key":"e_1_2_11_12_2","first-page":"218","article-title":"[Goltz-Gorlin syndrome in a male]","volume":"38","author":"Reber T.","year":"1987","journal-title":"Hautarzt, Der"},{"key":"e_1_2_11_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb00336.x"},{"key":"e_1_2_11_14_2","first-page":"554","article-title":"Focal Dermal Hypoplasia (Goltz Syndrome) in a Male. A Case Report","volume":"50","author":"Feinberg A.","year":"1976","journal-title":"South African Medical Journal"},{"key":"e_1_2_11_15_2","doi-asserted-by":"publisher","DOI":"10.14740\/jmc3442"},{"key":"e_1_2_11_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-0960.2010.00662.x"},{"key":"e_1_2_11_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21505"}],"container-title":["Case Reports in Dermatological Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crdm\/1302419","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crdm\/1302419","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crdm\/1302419","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T08:13:58Z","timestamp":1789460038000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crdm\/1302419"}},"subtitle":[],"editor":[{"given":"Semonti","family":"Nandi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crdm\/1302419"],"URL":"https:\/\/doi.org\/10.1155\/crdm\/1302419","archive":["Portico"],"relation":{},"ISSN":["2090-6463","2090-6471"],"issn-type":[{"value":"2090-6463","type":"print"},{"value":"2090-6471","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-05-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-20","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"1302419"}}