European Journal of Dermatology
MENUAnkyloblepharon-ectodermal defects-cleft lip/palate syndrome: a case with a novel p63 mutation associated with abnormal keratohyalin granules Volume 24, issue 4, July-August 2014
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1 Department of Dermatology,
Sapporo Medical University,
South 1, West 16, Chuo-ku,
Sapporo 060-8543,
Japan
Sapporo Medical University,
South 1, West 16, Chuo-ku,
Sapporo 060-8543,
Japan
- DOI : 10.1684/ejd.2014.2372
- Page(s) : 495-7
- Published in: 2014
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasias and is caused by mutations in p63 [1, 2]. Six isoforms are generated from the p63 gene and the main isoform expressed in postnatal skin is ΔNp63α, which functions as a key regulator of epidermal integrity. Mutations identified in AEC syndrome localize in sterile α motif and transactivation inhibitory domains [2]. [...]