A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all?
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.
Chiu
Yvonne E
YE
Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA. yechiu@cal.berkeley.edu
Drolet
Beth A
BA
Duffy
Kelly J
KJ
Holland
Kristen E
KE
D000015:Abnormalities, Multiple / Q000235:genetics; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D020125:Mutation, Missense; D012536:Scalp Dermatoses / Q000175:diagnosis / Q000235:genetics; 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