Phacomatoses

Heterogeneous malformation syndromes with skin changes and malformations of the CNS as well as other organs. The cutaneous symptoms are often already present at birth and allow early diagnosis.

The still used term "phakomatosis" (phakos = lens, mater = mother, here for mal) should be abandoned in favour of"neurocutaneous syndromes", since medico-historically only neurofibromatosis and Pringle-Bourneville's phakomatosis belong to the phakomatoses.