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& Feagan, B

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In addition, there are mosaic forms of the disease in which a late somatic mutation may give rise to mosaic neurofibromatosis with manifestations limited to one or several body segments (localized mosaicism or segmental neurofibromatosis), whereas early mutations give rise to a condition clinically indistinguishable from the generalized forms (generalized mosaicism).7 Type 2 mosaicism (in which a more affected segment is superimposed on generalized disease) is much less common in NF1 and to date has only been shown in segments already affected by neurofibromas.8 Skin Manifestations Diagnostic of Neurofibromatosis Type 1 Cutaneous findings, which are readily apparent on visual inspection, are usually the first sign of the disease

Hastings, Jennifer E