phakomatosis

• phacomatosis

The term, from the Greek φακός, phakos, "spot, lens", -(o)ma (-ωμα) and the suffix -osis, was introduced by Dutch ophthalmologist Jan van der Hoeve in 1920, before the distinct genetic basis of each of these diseases was understood.

• IPA^(key): /ˌfeɪkəʊməˈtəʊsɪs/, /ˌfæk-/

phakomatosis (plural phakomatoses)

1. Any of a group of neurocutaneous disorders of the central nervous system causing lesions on the skin and eye.

• neuro-oculo-cutaneous syndrome, neurocutaneous disorder, neurocutaneous syndrome

• ataxia telangiectasia
• incontinentia pigmenti
• neurofibromatosis
• nevoid basal cell carcinoma syndrome
• Sturge-Weber syndrome
• tuberous sclerosis
• Wyburn-Mason syndrome (Bonnet–Dechaume–Blanc syndrome)
• von Hippel-Lindau disease