Abstract
Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome with involvement of ectomesodermal tissues. Unilateral lipomatous hamartomas of the scalp and eyes are the hallmarks of this disorder. Associated findings are extremely variable, ranging from minor abnormalities to severe, debilitating disease. We report two unrelated Brazilian patients with encephalocraniocutaneous lipomatosis, one presenting with the full-blown spectrum of cutaneous, ocular, and central nervous system manifestations, and the other with minor extracutaneous manifestations after a 5-year follow-up period.
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