A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. representative examples include neurofibromatosis, tuberous sclerosis, von hippel-lindau syndrome, and sturge-weber syndrome.

Phakomatoses, also known as neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes. The majority of phakomatoses are single-gene disorders that may be inherited in an autosomal dominant, autosomal recessive or X-linked pattern...