Abstract
Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring disorder that belongs to the group of neurocutaneous syndromes. Important characteristics of the case we present are: intracranial lipomas, a skull hamartoma, bilateral lipodermoids and jaw tumors (ossifying fibromas and compound odontomas). We propose four minimal criteria for the diagnosis of ECCL and review the ocular abnormalities reported to date.
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Abbreviations
- ECCL:
-
encephalocraniocutaneous lipomatosis
- OCC:
-
oculocerebrocutaneous syndrome
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Maclaren, M.J.P., Kluijt, I. & Koole, F.D. Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis. Doc Ophthalmol 90, 87–98 (1995). https://doi.org/10.1007/BF01203299
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DOI: https://doi.org/10.1007/BF01203299