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A Case of Ankyloblepharon, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Ectrodactyly: Are the p63 Syndromes Distinct After All?
Author(s) -
Chiu Yvonne E.,
Drolet Beth A.,
Duffy Kelly J.,
Holland Kristen E.
Publication year - 2011
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.1525-1470.2009.00976.x
Subject(s) - ectrodactyly , ectodermal dysplasia , medicine , syndactyly , dermatology , scalp , anatomy
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.