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.
Berk
David R
DR
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
Crone
Kimberly
K
Bayliss
Susan J
SJ
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