Cicatricial upper eyelid retraction in encephalocraniocutaneous lipomatosis: a report of two cases and review of literature.
OBJECTIVE
To describe two patients with encephalocraniocutaneous lipomatosis (ECCL) and to review the literature on this disorder.


METHODS
Brain and orbit CT scans were performed on two patients with ECCL. Both patients were examined by the same ophthalmologist and neurologist during at least a 2-year follow-up period.


RESULTS
Unilateral skull hamartomas, intracranial abnormalities, epibulbar choristomas, and ocular adnexal changes including a specific form of cicatricial upper eyelid retraction were present in both patients.


CONCLUSIONS
ECCL is a special form of oculocerebrocutaneous disease that has significant adnexal findings that are essential for the diagnosis of this rare disorder.
Cruz
Antonio A V
AA
Department of Ophthalmology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil. aavecruz@fmrp.usp.br
Schirmbeck
Tarciso
T
Pina-Neto
João Monteiro
JM
Funayama
Carolina A R
CA
D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002921:Cicatrix / Q000000981:diagnostic imaging / Q000209:etiology*; D005141:Eyelid Diseases / Q000000981:diagnostic imaging / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000150:complications* / Q000000981:diagnostic imaging; D008297:Male; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000000981:diagnostic imaging; D009915:Orbit / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed