Diagnosis

  I am a 38 year old female,In Nov, 1997 I noticed lumps in my right foot I went to My personal
  physician who sent me to an orthopedic surgeon who said, after looking it up because
  he couldn't remember what it were called , gave me a diagnosis of Neurofibromatosis.
  He said there was nothing more could be done and released me from his care. The lumps
  or fibromas are now in my right arm and leg and very painful I might add. I have now
  seen a neurologist who can't say if it is or is not NF because I have only three
  cafe-au-liat spots .I had an MRI of my right foot and the fibromas are very dark
  and was said to have been solid. If it's not NF I was not given an alternative
  diagnosis.Should I look for another DR.?  
    
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Thanks for your question.  Neurofibromatosis (NF) is one of the so-called
"Neurocutaneous diseases" - that affects the nervous system and the skin.
There are two types of NF: NF1 and NF2, and both have automossomal dominant
inheritance (that is, only one of the parents needs to have it in order to
pass it to the offsprings), but a new genetic mutation is also possible.
There are several diagnostic criteria for NF1, and the presence of
"cafe-au-lait" spots, and neurofibromas (or schwanomas) are indeed part of
the criteria.  The most sensitive exam for the diagnosis is an eye test
called a "slit lamp exam" (done by an ophthalmologist) for the detection
of "Lisch Nodules" in the iris.  Other cutaneous manifestation of NF1 is
the presence of axillary freckles.
NF2 results from a different genetic alteration from NF1.  It can also
manifest with "cafe-au-lait" spots, and neurofibromas, although both features
are less common than NF1.  NF2 are more characteristically associated with
tumors in the eight cranial nerve, which is responsible for auditory and
balance functions.
Because of the possibility of Central Nervous System lesions, if there is
a reasonably strong suspicion of NF, a MRI scan of the brain should always
be done.  Since you indicated in your message that the skin alterations
are still quite uncomfortable, and you seem to indicate a desire for a
second opinion, I would recommend an appointment with a neurologist familiar
with neurocutaneous diseases, if possible in a major academic/medical center.
I hope this information is helpful.  Best of luck.
This information is provided for general medical education purposes only.
Please consult your doctor regarding diagnostic and treatment options.