Author/Editor		Peterlin, Borut; Medica, Igor
Title		Fakomatoze
Translated title		Phakomatoses
Type		članek
Source		Pedijatrija danas
Vol. and No.		Letnik 4, št. 1
Publication year		2008
Volume		str. 33-41
Language		cro
Abstract		"The article presents the characteristics of four syndromes which are considered as phakomatoses in a more restricted content: 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 usual 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 whidn may malignantly alienate 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.
Descriptors		NEUROFIBROMATOSIS TUBEROUS SCLEROSIS HIPPEL-LINDAU DISEASE STURGE-WEBER SYNDROME GENETIC COUNSELING