Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy Syndrome (EEM): A Rare Case Report - Abstract
EEM syndrome is a rare congenital disorder characterized by the association of ectodermal dysplasia, ectrodactyly and macular dystrophy. Only 17 cases have been reported so far, and autosomal recessive mode of inheritance has been proposed. We report a case of an 11-year-old boy presenting congenital alopecia universalis, ichthyotic lesions, dystrophic nails, ectrodactyly and photophobia, whose parents were not related and six maternal male relatives were affected by the same condition. Because the autosomal recessive mode of inheritance is unlikely in this case, an X-linked recessive mode is suggested, thus genetic heterogeneity of the disorder has to be considered.