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 compoun...

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Veröffentlicht in:	Documenta ophthalmologica 1995, Vol.90 (1), p.87-98
Hauptverfasser:	MACLAREN, M. J. P, KLUIJT, I, KOOLE, F. D
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Brain Diseases - complications Brain Diseases - pathology Child, Preschool Eye Abnormalities - complications Fibroma, Ossifying - pathology Hamartoma - pathology Humans Jaw Neoplasms - pathology Lipomatosis - complications Lipomatosis - pathology Magnetic Resonance Imaging Male Medical sciences Odontoma - pathology Ophthalmology Retinopathies Skin Diseases - complications Skin Diseases - pathology Skull - abnormalities
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Beschreibung
Zusammenfassung:	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.
ISSN:	0012-4486 1573-2622
DOI:	10.1007/bf01203299