Síndrome AEC (Hay-Wells)

Abstract

The ectodermal dysplasias are a complex nosological group of diseases that share in common anomalies of the hair, teeth, nails and sweat glands. The anomalies are extremely variable and clinical overlap is frequent. We report a 4-year-old girl, who was born with ankyloblepharon and cleft palate. She further developed dry skin, heat intolerance, tooth and nail dystrophy and scalp and skinfold infections. At physical examination she showed a facies with central hypoplasia, brittle and sparse hair, small teeth, nail dystrophy and hypopigmented macules on her axillae and groins. The AEC syndrome is a rare autosomal dominant disorder comprising ankyloblepharon, ectodermal dysplasia and cleft lip and palate. Animal models have demonstrated the occurrence of several mutations of a transcription factor in this syndrome, that is called p63 gene.