Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis

Journal of Child Neurology
Puneet JainSheffali Gulati

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.

References

Jul 1, 1987·Journal of Child Neurology·R A Brumback, R W Leech
Jul 1, 1987·Journal of Child Neurology·M A Fishman
Feb 1, 1970·Archives of Neurology·C Haberland, M Perou
Apr 1, 1995·Journal of Medical Genetics·E LegiusJ J Cassiman
Dec 15, 2000·Journal of Paediatrics and Child Health·D J AmorL J Smith
Jul 26, 2002·Journal of the American Academy of Dermatology·Iftikhar AhmedKenneth E Bloom
Feb 1, 2006·Pediatric Dermatology·Alexandre SofiattiMirian Sotto
Dec 17, 2008·Journal of Child Neurology·Efterpi PavlidouChristos Panteliadis
Jul 4, 2009·Journal of Medical Genetics·U Moog
Sep 17, 2009·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Alice Boyd SmithJames G Smirniotopoulos
Nov 28, 2012·Journal of Neurosurgery. Pediatrics·Sudhakar VadiveluMark A Mittler
Dec 1, 2012·Annals of Dermatology·Dae-Hun KimJeung-Hoon Lee

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Citations

May 18, 2013·Journal of Child Neurology·Biswaroop ChakrabartyChitra Sarkar
Nov 7, 2018·Pediatric Dermatology·Ayan KusariMagdalene Dohil
Dec 6, 2018·Topics in Magnetic Resonance Imaging : TMRI·Felipe S BarrosBruno P Soares
Apr 3, 2018·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Chen YangLouis P Dehner

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Methods Mentioned

BETA
surgical resection

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