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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.PD

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.

Authors+Show Affiliations

Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA. yechiu@cal.berkeley.eduNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19793345

Citation

Chiu, Yvonne E., et al. "A Case of Ankyloblepharon, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome With Ectrodactyly: Are the P63 Syndromes Distinct After All?" Pediatric Dermatology, vol. 28, no. 1, 2011, pp. 15-9.
Chiu YE, Drolet BA, Duffy KJ, et al. 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.
Chiu, Y. E., Drolet, B. A., Duffy, K. J., & Holland, K. E. (2011). A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all? Pediatric Dermatology, 28(1), 15-9. https://doi.org/10.1111/j.1525-1470.2009.00976.x
Chiu YE, et al. 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. PubMed PMID: 19793345.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all? AU - Chiu,Yvonne E, AU - Drolet,Beth A, AU - Duffy,Kelly J, AU - Holland,Kristen E, PY - 2009/10/2/entrez PY - 2009/10/2/pubmed PY - 2011/6/3/medline SP - 15 EP - 9 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 28 IS - 1 N2 - 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. SN - 1525-1470 UR - https://wwww.unboundmedicine.com/medline/citation/19793345/A_case_of_ankyloblepharon_ectodermal_dysplasia_and_cleft_lip/palate_syndrome_with_ectrodactyly:_are_the_p63_syndromes_distinct_after_all L2 - https://doi.org/10.1111/j.1525-1470.2009.00976.x DB - PRIME DP - Unbound Medicine ER -