Saturday, March 31, 2012

Neurofibromatosis Type 1

This very unfortunate woman has Von Recklinghausen's Disease, aka NF-1.  Despite the obvious neurofibromas (which buttonhole, as you remember) we also see axillary freckling/pigmentation, which we know as Crowe's Sign.  We should also examine the eyes, and would expect to see Lisch Nodules;  we would also expect to see cafe au lait patches (6 or more).  We could image them, looking for optic gliomas and would also expect a family member to have the disease (as it is inherited as an autosomal dominant disease), as well, although 50% of cases are spontaneous, i.e. not inherited.  

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