Phakomatoses [Article in Croatian]

Abstract

The article presents the characteristics of four syndromes which are considered as phakomatoses in a more restricted context: neurofibromatosis, tuberous sclerosis complex, Von Hippel-Lindau disease and Sturge-Weber syndrome, and their clinical genetics aspects. Phakomatoses are a diverse set of disorders related principally by a similar tendency to produce patchy manifestations that affect the central nervous system and the skin, these manifestations aiding the visual diagnosis of diseases. Various other tissues may be affected resulting in systemic symptoms. The common characteristics for the group of disorders also involve the occurrence of benign neoplasm or hamartomatous growths which may malignantly alterate. They may be inherited, linked to the action of tumour suppressor genes or they may be sporadic. The management of phakomatoses is symptomatic. In genetic forms genetic counselling is important in the context of genetic testing and for the prevention of the disease.