Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome

Am J Med Genet A. 2009 Sep;149A(9):1900-6. doi: 10.1002/ajmg.a.32797.


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 anomalies. 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cleft Lip / diagnosis
  • Cleft Lip / genetics
  • Cleft Lip / pathology*
  • Cleft Palate / diagnosis
  • Cleft Palate / genetics
  • Cleft Palate / pathology*
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / genetics
  • Ectodermal Dysplasia / pathology*
  • Eyelids / abnormalities*
  • Female
  • Hair / pathology
  • Humans
  • Infant
  • Male
  • Nails / pathology
  • Scalp / pathology
  • Skin / pathology*
  • Syndrome
  • Trans-Activators / genetics
  • Transcription Factors
  • Tumor Suppressor Proteins / genetics
  • Young Adult


  • TP63 protein, human
  • Trans-Activators
  • Transcription Factors
  • Tumor Suppressor Proteins