Mosaic disease: Some people
appear to have NF1 on only a segment of their body, leading to the
speculation that NF1 mutation has occurred in only a portion of
their cells. Mosaicism has also been seen in NF2 patients and may
have important implications for genetic counseling.
Multiple neurofibromas: The
development of multiple neurofibromas without NF1 is extremely rare.
Further work is needed to understand these unusual families.
Single tumors: The tumor types
of NF1 and NF2 (schwannomas, astrocytomas, neurofibromas and meningiomas)
are amongst the most common to affect people. Adults with single
NF related tumors do not have NF and carry no risk of having affected
children. Children with single NF related tumors should be carefully
evaluated for other signs or symptoms of NF until they reach adulthood.
Active research into the causes and
natural history of these phenotypes is currently being conducted
through the MGH NF clinic.
To make an appointment in the NF
clinic at MGH contact our clinical coordinator, Mona Badawy (617)
724-7856 or via e-mail firstname.lastname@example.org