Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report)

Abstract

The authors reported a 41-year-old female patient with EEM (ectodermal dysplasia, ectrodactyly and macular dystrophy) syndrome with hypotrichosis, teeth anomaly, split hand complex and retinal changes with prominent pigmentations located in the posterior pole of the retina. Retinal degeneration had shown minimal progression during 11 years. A longer follow-up period was necessary to make a definite diagnosis of these fundus changes. This is an isolated case born from a consanguineous marriage.

Key Words:

• ectodermal dysplasia
• ectrodactyly
• hypotrichosis
• autosomal recessive inheritance
• split hand complex
• macular dystrophy
• central and pericentral retinopathia pigmentosa
• partial anodontia