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

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 wh o presented with spastic diparesis, a partial paresis of the left forearm a nd macrocephaly. He had a large epidermal naevus along the cervical spine a nd a segmental hypermelanosis. MRI studies revealed a large intraspinal mas s extending from the lower cervical to the upper thoracic spine. The condit ion of our patient demonstrates the overlap of the epidermal naevus syndrom e with well-defined mosaic neuroectodermal phenotypes such as encephalocran iocutaneous lipomatosis, Feuerstein-Mims syndrome and Proteus syndrome. Con clusion: we recommend evaluation of all patients with large epidermal naevi , especially in the head and neck region, for the presence of central nervo us system abnormalities or neoplasms.