Encephalocraniocutaneous lipomatosis: case report and review of the literature.

PURPOSE: Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome characterized by lipomatous craniofacial hamartomas. The most common ocular manifestation is epibulbar choristoma, but many additional eye anomalies may be present.

METHODS

To our knowledge, this is the first reported case with bilateral aniridia. We report a case of a boy affected by this syndrome and review the literature.

CONCLUSION

Regarding this case, we suggest adding aniridia to the possible ocular anomalies in this syndrome.