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Arch Dermatol. 2005;141:1591-1594.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

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
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ABSTRACT | FULL TEXT