Neuro-Oculocutaneous Syndromes (Phakomatoses)

The term phakomatosis is derived from the Greek word phakoma, which means “birthmark.” In 1923, van der Hoeve grouped together von Hippel-Lindau disease, tuberous sclerosis, and neurofibromatosis because of their manifestations at birth, autosomal-dominant inheritance, and involvement of multiple systems. Subsequently, encephalofacial angiomatosis (Sturge-Weber syndrome) was added although there have been no instances of clear-cut inheritance of this condition. Other common features of the phakomatoses include a predominance of neural and ocular involvement with variable cutaneous and visceral manifestations. Wyburn-Mason syndrome, retinal cavernous hemangioma, and ataxia telangiectasia have also been grouped with the phakomatoses and have been included in this chapter. Phakomatosis pigmentovascularis and neurocutaneous melanosis are briefly described.