Authors: E. Seemanová Authors‘ workplace: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. LF UK, Praha vedoucí MUDr. M. Havlovicová Published in: Čes-slov Pediat 2003; (11): 722-724. Category:
Neurocutaneous melanosis is characteristic hamartomatosis of the skin, brain and meningeal pigmentation.Etiology of this disease is somatic mutation in some cell lines. Mutation in germline cells, non mosaic form isapparently prenatal lethal. The disorder is highly malignant even in childhood and therefore the transmissionthrough generations is unknown. Author refers her experience with clinical and genetic prognosis of 10 patients.
Key words: multiple skin pigment nevi, meningeal pigmentation, mosaic form due to postzygotic mutation,high risk of malignant melanoma
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