Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis.
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.
Department of Ophthalmology, Academic Hospital of the Free University, Amsterdam, The Netherlands.
M J
MJ
MacLaren
I
I
Kluijt
F D
FD
Koole
D001927:Brain Diseases / Q000150:complications* / Q000473:pathology; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000150:complications*; D018214:Fibroma, Ossifying / Q000473:pathology; D006222:Hamartoma / Q000473:pathology*; D006801:Humans; D007573:Jaw Neoplasms / Q000473:pathology; D008068:Lipomatosis / Q000150:complications* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009810:Odontoma / Q000473:pathology; D012871:Skin Diseases / Q000150:complications* / Q000473:pathology; D012886:Skull / Q000002:abnormalities*