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Encephalocraniocutaneous lipomatosis: a new case report and review of the literature.

Abstract
Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome characterized by lipomatous hamartomas ranging in size from a few millimeters to several centimeters and affecting the head. Ocular anomalies and a variable degree of mental retardation with or without convulsions are usually observed. This disorder should be distinguished from other mosaic neurocutaneous phenotypes such as Proteus syndrome, oculocerebrocutaneous syndrome, and nevus sebaceous syndrome. We report the clinicopathologic findings of a 4-year-old Brazilian girl affected by this syndrome and review the literature. To our best knowledge, this is the first documented case of encephalocraniocutaneous lipomatosis occurring sporadically in South America.
AuthorsR Romiti, J A Rengifo, M Arnone, M N Sotto, N Y Valente, T Jansen
JournalThe Journal of dermatology (J Dermatol) Vol. 26 Issue 12 Pg. 808-12 (Dec 1999) ISSN: 0385-2407 [Print] England
PMID10659502 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Hamartoma (pathology)
  • Humans
  • Intellectual Disability
  • Lipoma (pathology)
  • Neurocutaneous Syndromes (pathology)

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