AEC syndrome caused by a novel p63 mutation and demonstrating erythroderma followed by extensive depigmentation.
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.
Division of Dermatology, Department of Internal Medicine, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri 63110, USA. dberk@im.wustl.edu
David R
DR
Berk
Kimberly
K
Crone
Susan J
SJ
Bayliss
D000015:Abnormalities, Multiple / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics; D003873:Dermatitis, Exfoliative / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics*; D007231:Infant, Newborn; D017354:Point Mutation; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins