PubMed · 2010 · 12 citations · 2 references
MedicineNeurologyPathologyAnatomic PathologyGenodermatosesNeuropathologyConnective Tissue DisordersGenetic Disease PathologyMosaicismNeurocutaneous SyndromesNeurogenetic DisordersSyndromic GenodermatosesConnective Tissue Disorder SyndromesDisorderNeurofibromatosis Type 1OverviewSegmental MosaicismSomatic Mosaic DisordersSomatic Mosaicism AnalysisTissue Mosaicism
Segmental neurofibromatosis is a rare disorder characterized by features of neurofibromatosis type 1 circumscribed to a particular body segment. This entity is considered to be the result of a somatic mosaicism and is still under-diagnosed. We report a case of segmental neurofibromatosis and give a brief and up-to-date overview of the disease.
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