Epidermal naevus and segmental hypermelanosis associated with an intraspinal mass: overlap between different mosaic neuroectodermal syndromes. Review uri icon

Overview

abstract

  • UNLABELLED: The epidermal naevus syndrome is a neurocutaneous syndrome characterised by the association of epidermal naevi with central nervous system, skeletal, ocular or cardiovascular abnormalities. We report on a 1.75-year-old boy who presented with spastic diparesis, a partial paresis of the left forearm and macrocephaly. He had a large epidermal naevus along the cervical spine and a segmental hypermelanosis. MRI studies revealed a large intraspinal mass extending from the lower cervical to the upper thoracic spine. The condition of our patient demonstrates the overlap of the epidermal naevus syndrome with well-defined mosaic neuroectodermal phenotypes such as encephalocraniocutaneous lipomatosis, Feuerstein-Mims syndrome and Proteus syndrome. CONCLUSION: we recommend evaluation of all patients with large epidermal naevi, especially in the head and neck region, for the presence of central nervous system abnormalities or neoplasms.

publication date

  • October 1, 2001

Research

keywords

  • Nevus, Pigmented
  • Skin Neoplasms
  • Spinal Cord Compression

Identity

Scopus Document Identifier

  • 0034795601

Digital Object Identifier (DOI)

  • 10.1007/s004310100832

PubMed ID

  • 11686504

Additional Document Info

volume

  • 160

issue

  • 10