Epidermal nevus syndrome: epithelial and cutaneous tumours without systemic disorders: a case report

Epidermal nevus syndrome (ENS) is a rare disease characterized by the association of epidermal nevi with abnormalities in other organs and districts affecting prevalently pediatric patients1. The first descriptions of an association of epidermal nevi, neurologic disorders and mental retardation were made by Schimmelpenning in 19572 and extensively reviewed in 1975 by Solomon and Esterly. Central nervous system (cortical atrophy, mental retardation, cerebrovascular malformations and neoplasias), skeletal system (bone cysts, scoliosis syndactyly, polydactyly, chinodacctyly) and eyes (choristomas, bilateral cataracts, colobomas) are most commonly involved while endocrine (hypophosphatemic rickets and precocious puberty), cardio-vascular (aneurysms and malformations), urogenital (testicular adenomas, double ureters), oral and skin lesion other than epidermal nevi were also reported1. It has been determined that there is not just one category of ENS, distinguished from each other by their clinical features and genetic pattern. In 1995, Happle defined six types of ENS but, for the polymorphism showed by the syndrome, different association of anomalies may be present. Sebaceous nevus syndrome, nevus comedonicus syndrome, Becker nevus syndrome, Proteus syndrome, CHILD syndrome are only some examples of the clinical features showed by ENS3. We reported a case of a patients affected by epidermal nevus syndrome with the concomitant presence of oral papillomatosis and cutaneous anomalies including nevi, basal cell carcinoma and siryngocystadenoma without systemic involvement. A concise analysis of the principal epithelial, oral and other lesions associated with ENS and a discussion of the possible relationship between our findings and ENS was performed.