Encephalocraniocutaneous lipomatosis (ECCL), is a rare condition primarily affecting the brain, eyes, and skin of the head and face.
[4] Eighty to ninety percent of those with encephalocraniocutaneous lipomatosis are unable to produce and keep fat tissue and have multiple lipomas.
[citation needed] The most common ocular abnormality in encephalocraniocutaneous lipomatosis is a form of benign growth called a choristoma that can occur in one or both eyes.
[8] Encephalocraniocutaneous lipomatosis can result from mutations in the FGFR1 gene, which provides instructions for making a protein called fibroblast growth factor receptor 1 (FGFR1).
This receptor interacts with proteins called fibroblast growth factors (FGFs) to trigger signaling within cells.