How to cite this article: Julapalli MR, Scher RK, Sybert VP, Siegfried EC, Bree AF. 2009. Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J Med Genet Part A 149A:1900–1906.
Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome†
Article first published online: 13 AUG 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Special Issue: Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate Syndrome and Ectodermal Dysplasias
Volume 149A, Issue 9, pages 1900–1906, September 2009
How to Cite
Julapalli, M. R., Scher, R. K., Sybert, V. P., Siegfried, E. C. and Bree, A. F. (2009), Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am. J. Med. Genet., 149A: 1900–1906. doi: 10.1002/ajmg.a.32797
- Issue published online: 20 AUG 2009
- Article first published online: 13 AUG 2009
- Manuscript Accepted: 26 JAN 2009
- Manuscript Received: 24 AUG 2008
- National Foundation for Ectodermal Dysplasias (NFED)
- ectodermal dysplasia;
- congenital ectodermal defect;
- skin care;
- wound healing;
- TP63 protein
Hay–Wells syndrome, caused by mutations in the p63 gene, is an autosomal dominant ectodermal dysplasia with the main features of ankyloblepharon filiforme adnatum, ectodermal defects, and cleft lip/palate, from which the disorder's other name, AEC syndrome, is derived. The National Foundation for Ectodermal Dysplasias convened the International Research Symposium for AEC Syndrome on November 8–10, 2006, at Texas Children's Hospital/Baylor College of Medicine, Houston, TX with appropriate IRB approval. This multidisciplinary conference was the largest gathering of such patients to date and allowed us to further characterize dermatologic features of AEC syndrome, which included: sparse and wiry hair, nail changes, past or present scalp erosions, decreased sweat production, palmar/plantar changes, and unique pigmentary anomolies. Early recognition of the features of AEC syndrome and subsequent early diagnosis is important in minimizing invasive diagnostic studies, improving morbidity and mortality, and providing genetic counseling. Skin erosions, especially those of the scalp, were identified as the most challenging cutaneous aspect of this syndrome. Although the reasons for the skin erosions and poor healing are not known, mutations of p63 may lead to a diminished store of basal cells capable of replenishing the disrupted barrier. Therapeutic strategies currently under exploration include gene therapy, as well as epidermal stem cell therapy. Until then, gentle wound care and limiting further trauma seem to be the most prudent treatment modalities. © 2009 Wiley-Liss, Inc.