Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome

Abstract

Purpose: To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement. Methods: A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities. Results: The findings of nevus psiloliparus, eyelid choristoma and intracranial lipoma were consistent with ECCL. Conclusion: Since the skin and ocular manifestations can be easily observed at birth examination, pediatricians and ophthalmologists should be aware of this condition.

Keywords

• Choristoma
• Encephalocraniocutaneous lipomatosis
• Neurocutaneous
• Nevus psiloliparus