Premium
AEC Syndrome Caused by a Novel p63 Mutation and Demonstrating Erythroderma Followed by Extensive Depigmentation
Author(s) -
BERK DAVID R.,
CRONE KIMBERLY,
BAYLISS SUSAN J.
Publication year - 2009
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2009.00997.x
Subject(s) - erythroderma , depigmentation , medicine , dermatology , ectodermal dysplasia , mutation , genetics , biology , gene
We present an infant with AEC syndrome due to a novel TP63 mutation (F552S), who demonstrated neonatal erythroderma followed by extensive depigmentation. We are unaware of previous reports highlighting the extensive depigmentation present in our patient.