Epidermal Nevus Syndrome

Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems.

Clinical description

Epidermal nevi are developmental disorders characterized by hyperplasia of epidermal structures in a circumscribed area of the skin. Most are present at birth, occur sporadically and affect both sexes. All well-defined ENS are lethal gene syndromes, except nevus comedonicus syndrome. About 50% of the patients have neurological abnormalities that include mental retardation and epilepsy, spastic paresis, cerebral vascular malformations, cortical atrophy, lateral ventricle enlargement. About one third of the patients may have ocular abnormalities such as colobomas of the eyelid, iris and retina, conjuctival lipodermoids and choristomas, cortical blindness, micro-, macro- or anophthalmia, corneal opacities and cataracts. Skeletal abnormalities and many other non-cutaneous abnormalities may be present.

Management and treatment

No ideal medical therapy for the cutaneous lesions of ENS exists. The skin lesions may be amenable to surgery. The inflammatory linear verrucous epidermal nevus (ILVEN) sometimes responds to Erbium-YAG laser or vitamin D analogues. Salicylic acid, topical and systemic retinoids, emollients, shave dermabrasion and cryotherapy have been tried. The concomitant skeletal and ocular defects can be surgically repaired. Epilepsy should be treated appropriately.