Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis, is a rare condition primarily affecting the brain, eyes, and skin of the head and face. It is characterized by unilateral subcutaneous and intracranial lipomas, alopecia, unilateral porencephalic cysts, epibulbar choristoma and other ophthalmic abnormalities. This condition is described as sporadic because it occurs in people without a history of the disorder in their family.
It was named after Haberland and Perou who first described it.
Signs and symptoms
Eighty to ninety percent of those with encephalocraniocutaneous lipomatosis are unable to produce and keep fat tissue and have multiple lipomas. Other types of growths, including jaw tumours, may also occur.Approximately two thirds of individuals with encephalocraniocutaneous lipomatosis have intracranial and/or intraspinal lipomas. They also have an increased risk of developing a form of brain cancer known as a glioma. Other neurological issues that can occur include seizures, spasticity and variable intellectual disability. However, approximately one third of affected individuals have typical intelligence.
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. These may affect vision. Other ocular symptoms include abnormally small eyes, small pupils, iris hypoplasia, sclerocornea, hypertrophic conjunctivae, an absent macular reflex and anterior chamber anomalies. There may be eyelid colobomas and short or abnormal palpebral fissures. Skin tags often grow around the eyelids.