Phacomatosis and Dysgenetic Syndromes

Abstract

This is a group of pathological conditions characterized by malformations involving more than one system. The skin is frequently involved, and so these diseases have also been called the “neurocutaneous syndromes,” but this term does not encompass all possible pathological entities in this group; thus, the term “phacomatosis” is more widely used. This simply refers to the term phacoma (φακόϱ = lens) which van der Hoeve [2899] gave to the small hyperplastic formations of the retina. These are genetically determined syndromes and, therefore, generally familial. In the CNS the manifestations include tumors, hamartomas, and various malformations.