Phakomatoses

Phakomatoses (or "neurocutaneous syndromes") are disorders of central nervous system that additionally result in lesions on the skin and the retina. These tissues have a common ectodermal origin. The term, which means "spot", was introduced by Jan van der Hoeve in the 1920s, before the distinct genetic basis of each of these diseases was understood.

Examples of phakomatoses

 * Neurofibromatosis
 * Tuberous sclerosis
 * Ataxia telangiectasia
 * Sturge-Weber syndrome
 * von Hippel-Lindau disease
 * Incontinentia pigmenti