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Skin Erosions and Wound Healing in Ankyloblepharon–Ectodermal Defect–Cleft Lip and/or Palate
Arch Dermatol. 2005;141:1591-1594.
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Ankyloblepharon–ectodermal defect–cleft lip and/or palate (AEC) (Hay-Wells syndrome, Online Mendelian Inheritance in Man No. 106220) belongs to a large, heterogeneous group of ectodermal dysplasias (EDs) that affect embryonic development of ectodermal tissues. The EDs most commonly present with defects in the hair, nails, teeth, sweat glands, and skin. The number and definition of distinct ED syndromes are ambiguous because of overlapping phenotypes and genotypes, and estimates of their overall incidence vary widely; estimates of 1:100 000 births in the United States and 7:10 000 internationally have been reported.1
The National Foundation for Ectodermal Dysplasias convened a Skin Erosion and Wound Healing in AEC workshop conference on September 18 and 19, 2003, at the Department of Dermatology, St Louis University, St Louis, Mo. Findings from that conference are summarized in this article.
Recent discoveries have linked AEC and a closely related ED, ectrodactyly–ectodermal dysplasia–clefting syndrome (EEC), to mutations in the P63 gene, . . . [Full Text of this Article] CLINICAL DIAGNOSTIC FEATURES
IMPORTANT AEC-ASSOCIATED CLINICAL FEATURES
PATHOLOGIC FEATURES
MOLECULAR AND GENETIC BASIS OF DISEASE
CURRENT SKIN CARE RECOMMENDATIONS
EMERGING THERAPEUTIC STRATEGIES
RESEARCH NEEDS: TISSUE BANK
AUTHOR INFORMATION
Elaine Siegfried, MD;
Alanna Bree, MD;
Mary Fete, RN, MSN;
Virginia P. Sybert, MD
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Two Novel TP63 Mutations Associated With the Ankyloblepharon, Ectodermal Defects, and Cleft Lip and Palate Syndrome: A Skin Fragility Phenotype
Aimee S. Payne, Albert C. Yan, Erum Ilyas, Weijie Li, John T. Seykora, Terri L. Young, Bruce R. Pawel, Paul J. Honig, Jeanette Camacho, Sonia Imaizumi, Warren R. Heymann, and Rhonda E. Schnur
Arch Dermatol. 2005;141(12):1567-1573.
ABSTRACT
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