Neuro-ocular cutaneous syndrome: a case report

Neuro-ocular cutaneous syndrome is a rare and little-known illness. It affects the ocular apparatus, the nervous system and the skin. The disease causes pathologies such as phacomatosis, which is a generic term used to describe small cutaneous neoformations, as well as other ectodermal organ malformations (ocular apparatus and central nervous system). The symptoms of this disease are ocular, neurological and dermatological and can include: corneal opacity, papillary coloboma, optical atrophy, epibulbar dermoids, corectopia, palpebral coloboma, frontoparietal alopecia, epilepsy, psychomotor delay, pedunculated skin growths, a yellowing of the frontal area, milled papules, milled patches of skin, cutaneous spotting, familial angioma and hemiplegia. Due to the complexity of this disease, it is imperative that specialists (including ophthalmologists, neurologists, dermatologists, plastic surgeons, pediatricians and genetics) examine a great number of families affected by this rare pathology in a precise, accurate and ongoing manner. The clinical case of a 15 year-old patient (who was diagnosed at 10 months old) affected by the neuro-ocular cutaneous syndrome will be discussed below.