{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T14:46:15Z","timestamp":1790952375469,"version":"4.1.0"},"reference-count":38,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T00:00:00Z","timestamp":1701129600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health RF-2016-02361159","award":["I74I18000160006"],"award-info":[{"award-number":["I74I18000160006"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Aims: The Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon\u2013ectodermal defect\u2013cleft lip\/palate (AEC) syndromes are rare autosomal dominant diseases caused by heterozygous mutations in the p63 gene. Patients are characterized by abnormalities of the skin, teeth, and hair and have limb defects, orofacial clefting and ectodermal dysplasia. In addition, they often show ocular surface alterations, leading to progressive corneal clouding and eventually blindness. Here, we present 8 cases describing patients affected by EEC (n = 6, with 5 sporadic and 1 familial cases) and AEC (n = 2, both sporadic cases) syndromes. We attempt to provide a description of the ocular disease progression over the years. Methods: Clinical examinations and monitoring of ocular parameters for the assessment of limbal stem cell deficiency were constantly performed on patients between 2009 and 2023. Quantitative data and comparison with existing cases described in the literature are reported. Results: The therapies supplied to patients were essential for the management of the symptoms, but unfortunately did not halt the progression of the pathology. Conclusions: A constant monitoring of the patients would help avoid the sudden worsening of symptoms. If the progression of the disease slows down, it would allow for the development of newer therapeutic strategies aimed at correcting the genetic defect.<\/jats:p>","DOI":"10.3390\/jcm12237377","type":"journal-article","created":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T11:43:16Z","timestamp":1701171796000},"page":"7377","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes"],"prefix":"10.3390","volume":"12","author":[{"given":"Enzo","family":"Di Iorio","sequence":"first","affiliation":[{"name":"Clinical Genetics Unit, University Hospital of Padua, 35128 Padua, Italy"},{"name":"Department of Molecular Medicine, University of Padua, 35128 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2078-6189","authenticated-orcid":false,"given":"Filippo","family":"Bonelli","sequence":"additional","affiliation":[{"name":"Fondazione Banca Degli Occhi del Veneto, 30174 Venice, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raluca","family":"Bievel-Radulescu","sequence":"additional","affiliation":[{"name":"Fondazione Banca Degli Occhi del Veneto, 30174 Venice, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicol\u00f2","family":"Decastello","sequence":"additional","affiliation":[{"name":"Fondazione Banca Degli Occhi del Veneto, 30174 Venice, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3983-3328","authenticated-orcid":false,"given":"Stefano","family":"Ferrari","sequence":"additional","affiliation":[{"name":"Fondazione Banca Degli Occhi del Veneto, 30174 Venice, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8760-2343","authenticated-orcid":false,"given":"Vanessa","family":"Barbaro","sequence":"additional","affiliation":[{"name":"Fondazione Banca Degli Occhi del Veneto, 30174 Venice, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Ponzin","sequence":"additional","affiliation":[{"name":"Fondazione Banca Degli Occhi del Veneto, 30174 Venice, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,11,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/S1097-2765(00)80275-0","article-title":"p63, a p53 Homolog at 3q27\u201329, Encodes Multiple Products with Transactivating, Death-Inducing, and Dominant-Negative Activities","volume":"2","author":"Yang","year":"1998","journal-title":"Mol. 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