Neurocutaneous Melanosis
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:
Overview
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
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2003 Issue 11
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