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A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all? Pediatr Dermatol 2011 Jan-Feb;28(1):15-9 PMID: 19793345

Pubmed ID

19793345

Abstract

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 KE

Authors

Yvonne E. Chiu MD Associate Professor in the Dermatology department at Medical College of Wisconsin
Beth A. Drolet MD Professor in the Dermatology department at Medical College of Wisconsin
Kristen E. Holland MD Associate Professor in the Dermatology department at Medical College of Wisconsin




Scopus

2-s2.0-79551531426   5 Citations

MESH terms used to index this publication - Major topics in bold

Abnormalities, Multiple
Cleft 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
jenkins-FCD Prod-300 626508253d14e4184314fb9f66322a03a5906796