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.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.