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

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.

• Authors: J L Zakrzewski, T Luecke, K H Bentele, P H Hoeger
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 160 Issue 10 Pg. 603-6 (Oct 2001) ISSN: 0340-6199 [Print] Germany
• PMID: 11686504 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Cervical Vertebrae
• Humans
• Infant
• Magnetic Resonance Imaging
• Male
• Nevus, Pigmented (complications, diagnosis)
• Paresis (etiology)
• Skin Neoplasms (complications, diagnosis)
• Spinal Cord Compression (diagnosis, etiology)