These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Ocular and systemic manifestations of encephalocraniocutaneous lipomatosis.
    Author: Kodsi SR, Bloom KE, Egbert JE, Holland EJ, Cameron JD.
    Journal: Am J Ophthalmol; 1994 Jul 15; 118(1):77-82. PubMed ID: 8023879.
    Abstract:
    Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome with epibulbar choristomas and connective tissue nevi of the eyelids as common ophthalmic manifestations. Systemic manifestations occur ipsilateral to the ocular lesions and include lipomas of the cranium and central nervous system, alopecia of the scalp, and abnormalities of the central nervous system. We treated a child with encephalocraniocutaneous lipomatosis who required removal of an epibulbar choristoma. Pathologic evaluation of the epibulbar choristoma in our patient showed the presence of ectopic lacrimal gland tissue and cartilage. Encephalocraniocutaneous lipomatosis should be considered, together with Goldenhar's syndrome and sebaceous nevus syndrome, in the differential diagnosis of conditions associated with epibulbar choristomas.
    [Abstract] [Full Text] [Related] [New Search]