A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all? Pediatr Dermatol 2011;28(1):15-9
Date
10/02/2009Pubmed ID
19793345DOI
10.1111/j.1525-1470.2009.00976.xScopus ID
2-s2.0-79551531426 (requires institutional sign-in at Scopus site) 12 CitationsAbstract
Ectodermal dysplasias are diseases with abnormal development of ectodermally derived tissues such as skin, hair, teeth, and nails. Mutations in the transcription factor p63 have been linked to several syndromes characterized by ectodermal, orofacial, and limb defects. We present the case of an infant with ankyloblepharon, cleft palate, scalp dermatitis, and ectrodactyly. She is unique for having a novel p63 mutation that has not been previously reported. Her case also points to the significant overlap between the p63-associated ectodermal dysplasias and challenges the traditional diagnostic schema for these rare syndromes.
Author List
Chiu YE, Drolet BA, Duffy KJ, Holland KEAuthors
Yvonne E. Chiu MD Vice Chair, Professor in the Dermatology department at Medical College of WisconsinKristen E. Holland MD Associate Professor in the Dermatology department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleCleft Lip
Cleft Palate
Ectodermal Dysplasia
Eye Abnormalities
Female
Fingers
Foot Deformities, Congenital
Hand Deformities, Congenital
Humans
Infant, Newborn
Limb Deformities, Congenital
Mutation, Missense
Scalp Dermatoses
Trans-Activators
Transcription Factors
Tumor Suppressor Proteins
