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

Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis.

Author information

  • 1Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • 2Department of Radio-Diagnosis, JPNA Trauma Centre, All India Institute of Medical Sciences, New Delhi, India.
  • 3Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • 4Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India sheffaligulati@gmail.com.

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.

© The Author(s) 2013.

KEYWORDS:

choroid plexus papilloma; encephalocraniocutaneous lipomatosis; giant nevus; melanocytic; neurocutaneous melanosis

PMID:
23620525
[PubMed - in process]
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