Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions.
Publication/Presentation Date
1-1-2011
Abstract
Ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is a rare disorder characterized by ankyloblepharon (congenital adhesions of the eyelids), ectodermal dysplasia, and orofacial clefts. Here, we report the case of an infant born with severe ectodermal dysplasia including generalized neonatal erosions with scalp involvement, facial clefting but notably without ankyloblepharon. Mutational analysis of the p63 gene showed a novel heterozygous T>C nucleotide substitution on exon 14 (I597T). To our knowledge, this is a novel mutation that has not previously been reported in the pathogenesis of AEC, or other p63-related syndromes. This case further highlights the clinical and genetic heterogeneity of p63 syndromes.
Volume
28
Issue
3
First Page
313
Last Page
317
ISSN
1525-1470
Published In/Presented At
Sawardekar, S. S., & Zaenglein, A. L. (2011). Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions. Pediatric dermatology, 28(3), 313–317. https://doi.org/10.1111/j.1525-1470.2010.01207.x
Disciplines
Medicine and Health Sciences
PubMedID
20738799
Department(s)
Department of Medicine
Document Type
Article