Ectrodactyly-Ectodermal Dysplasia-Clefting(EEC) Syndrome with Ocular Defects and Nevus Lipomatosus Cutaneous Superficialis

ABSTRACT

The ectrodactyly-ectodermal dysplasia-clefting(EEC) syndrome is a rare autosomal dominant disease which has multiple congenital anomalies characterized by ectodermal dysplasia, distal limb anomaly, cleft lip and palate, and lacrimal duct anomalies. There is wide variability of clinical expression of this syndrome, and occasional nonpenetrance. We report a 1 year old girl with typical EEC syndrome manifestations, who presented dry skin, light colored sparse hair on scalp, cleft lip and palate, microdontia with oligodontia, partial syndactyly of the hands, total syndactyly of the feet and mild developmental delay, including ocular defects and skin lesions. Ocular MRI showed microphthalmia with cystic mass on both eye globes and atrophy of the optic nerves. Vesicle like skin lesions were consistent with nevus lipomatosus cutaneous superficialis by pathologic study.