Oculo-ectodermal Syndrome: A Case Report

1. Dialika Muzakkir¹
2. Dian Estu¹
3. Rita Sitorus¹

¹University of Indonesia, Jakarta

Purpose To present a rare case of oculo-ectodermal syndrome, a congenital disorder with clinical manifestations epibulbar dermoids, aplasia cutis congenital and other systemic abnormalities.

Methods Case Report. A 5 months-old infant girl admitted to our Pediatric Ophthalmology clinic with presenting signs epibulbar dermoid in inferotemporal limbus of her right eye, aplasia cutis on her occipital part and pre-auricular skin tags since she was born. She was born at 32 weeks gestational age with spontaneous delivery. Her birth weight was 2600 grams. No history of cosanguinity. No other systemic nor ocular abnormality was found.

Results The findings in this patient are consistent with previous reports, referred as oculo-ectodermal syndrome.

Conclusion Epibulbar dermoid is a sign that may associate with other ocular and/or non ocular anomalies, and may lead to variable distinct disease entities. Evaluation of other ocular and non-ocular abnormalities is, therefore, important in order to make more specific diagnosis and treatment.