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Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis
M J MacLaren1, I Kluijt, F D Koole
1Department of Ophthalmology, Academic Hospital of the Free University, Amsterdam, The Netherlands.
Documenta Ophthalmologica. Advances in Ophthalmology
|January 1, 1995
Summary
Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome. This case highlights key features like intracranial lipomas and jaw tumors, proposing diagnostic criteria.
Area of Science:
- Neuroscience
- Genetics
- Dermatology
Background:
- Encephalocraniocutaneous lipomatosis (ECCL) is a rare, sporadic neurocutaneous syndrome.
- It is characterized by congenital, non-progressive affecting the brain, skull, and skin.