{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T23:55:31Z","timestamp":1775087731610,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,2,27]],"date-time":"2019-02-27T00:00:00Z","timestamp":1551225600000},"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":["The Journal of Dermatology"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon\u2013ectodermal dysplasia\u2013clefting (<jats:styled-content style=\"fixed-case\">AEC<\/jats:styled-content>) syndrome were present, the ankyloblepharon was not very marked. We misdiagnosed epidermolysis bullosa and congenital ichthyosiform erythroderma at first and confirmed the diagnosis of <jats:styled-content style=\"fixed-case\">AEC<\/jats:styled-content> syndrome only when she presented with the typical clinical manifestation of recurrent infected scalp erosions at 1 year of age. Mutation analysis of exon 13 of the <jats:italic>p63<\/jats:italic> gene revealed a missense mutation Ile482Thr (c.1445T&gt;C) in the sterile alpha motive domain. In this work we review the clinical features, differential diagnosis and prognosis in <jats:styled-content style=\"fixed-case\">AEC<\/jats:styled-content> syndrome.<\/jats:p>","DOI":"10.1111\/1346-8138.14837","type":"journal-article","created":{"date-parts":[[2019,2,27]],"date-time":"2019-02-27T08:27:45Z","timestamp":1551256065000},"page":"422-425","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Ankyloblepharon\u2013ectodermal dysplasia\u2013clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work"],"prefix":"10.1111","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1344-9272","authenticated-orcid":false,"given":"Zhen","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 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