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Updated: Aug 13, 2026

Lipidomics and Transcriptomics in Neurological Diseases
Published on: March 18, 2022
Encephalocraniocutaneous lipomatosis: clinical spectrum of systemic involvement
Alexandre Sofiatti1, Ana Gabriela Cirto, Marcelo Arnone
1Department of Dermatology, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Brazil.
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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