{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T20:08:14Z","timestamp":1772827694375,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2009,8,20]],"date-time":"2009-08-20T00:00:00Z","timestamp":1250726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ankyloblepharon\u2010Ectodermal defects\u2010Cleft lip\/palate (AEC) syndrome is a rare disorder of hair, skin, nails, and dentition caused by mutations in the <jats:italic>p63<\/jats:italic> gene. Pathologic changes of skin and hair in AEC syndrome have previously been described in isolated case reports. Biopsies of normal and lesional skin from 19 patients with AEC syndrome were examined by light microscopy. Hair samples from 18 patients were examined by light and scanning electron microscopy. Histopathologic changes identified within the skin biopsies from clinically unaffected skin include mild atrophy, focal orthokeratosis, and mild superficial perivascular lymphocytic dermatitis. Scattered melanophages in the superficial and deep dermis likely reflect post\u2010inflammatory change. One patient with a unilateral eruption of monomorphic papulopustules on the chest and shoulder demonstrated an acneiform intraepidermal pustule. Examination of the hair shafts revealed atrophy and loss of melanin pigment in some of the patients. Structural abnormalities included <jats:italic>pili torti<\/jats:italic>, <jats:italic>pili trianguli et canaliculi<\/jats:italic>, and irregular indentation and shallow grooves. Skin and hair findings in AEC syndrome were found to be generally similar to those described in other ectodermal dysplasia syndromes and corroborates the few prior descriptions in AEC syndrome specifically. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32826","type":"journal-article","created":{"date-parts":[[2009,8,20]],"date-time":"2009-08-20T21:26:11Z","timestamp":1250803571000},"page":"1935-1941","source":"Crossref","is-referenced-by-count":31,"title":["Pathologic changes of skin and hair in ankyloblepharon\u2010ectodermal defects\u2010cleft lip\/palate (AEC) syndrome"],"prefix":"10.1002","volume":"149A","author":[{"given":"Megan K.","family":"Dishop","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alanna F.","family":"Bree","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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