| A Case of Ankyloblepharon, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Ectrodactyly: Are the p63 Syndromes Distinct After All? | |
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MedLine Citation:
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PMID: 19793345 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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. |
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Authors:
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Yvonne E Chiu; Beth A Drolet; Kelly J Duffy; Kristen E Holland |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Pediatric dermatology Volume: 28 ISSN: 1525-1470 ISO Abbreviation: Pediatr Dermatol Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2011-01-31 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8406799 Medline TA: Pediatr Dermatol Country: United States |
Other Details:
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Languages: eng Pagination: 15-9 Citation Subset: IM |
Copyright Information:
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© 2009 The Authors. Journal compilation © 2009 Wiley Periodicals, Inc. |
Affiliation:
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Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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