phakomatosis

English

Alternative forms

• phacomatosis

Etymology

phak- +‎ -omato- +‎ -osis, from the Greek φακός (phakós, “spot, lens”), -ωμα (-ōma, “process”), and the suffix -osis; the term was introduced by Dutch ophthalmologist Jan van der Hoeve in 1920, before the distinct genetic basis of each of these diseases was understood.

Pronunciation

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

Noun

phakomatosis (plural phakomatoses)

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

Synonyms

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

Hyponyms

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