Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis

J Child Neurol. 2014 Jun;29(6):846-9. doi: 10.1177/0883073813485432. Epub 2013 Apr 25.

Abstract

Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome characterized by classical cutaneous and ocular lesions with central nervous system anomalies. We describe an infant with classical encephalocraniocutaneous lipomatosis characterized by probable naevus psiloliparus, frontal subcutaneous lipomas, ocular limbal dermoids and arachnoid cysts, and ventriculomegaly. He also had giant congenital nevus with leptomeningeal melanosis. This case represents a rare association between encephalocraniocutaneous lipomatosis and neurocutaneous melanosis.

Keywords: choroid plexus papilloma; encephalocraniocutaneous lipomatosis; giant nevus; melanocytic; neurocutaneous melanosis.

Publication types

  • Case Reports

MeSH terms

  • Choroid Plexus / pathology
  • Eye Diseases / complications*
  • Humans
  • Infant
  • Lateral Ventricles / pathology
  • Lipomatosis / complications*
  • Magnetic Resonance Imaging
  • Male
  • Melanosis / complications*
  • Neurocutaneous Syndromes / complications*

Supplementary concepts

  • Encephalocraniocutaneous lipomatosis
  • Neurocutaneous melanosis