Resident's Flash Card: Neurofibromatosis

Neurofibromatosis - I (von Recklinghausen’s disease)

- autosomal dominant (abnormality is on chromosome 17)

- diagnostic criteria include six or more cafe-au-lait spots, axillary or inguinal freckling, two (or more) neurofibromas, optic glioma (most common CNS neoplasm - occurs in 30-90% and is bilateral in 10-20%), iris hamartoma, distinctive osseous lesions, or a first-degree relative with NF-1

- hypertension may be found with renal artery fibromuscular dysplasia

- neurofibromas can occur in the urinary and gastrointestinal tracts

- increased incidence of all types of neoplasms 

- malignant transformation of the neurofibroma into neurofibrosarcoma occurs in about 5%

- lateral thoracic meningoceles are a common manifestation of spinal neurofibromatosis; most authors believe that they are secondary to menigeal dysplasia (dural ectasia). 80% of patients with lateral thoracic meningoceles have neurofibromatosis.

- a plexiform type of neurofibroma is virtually pathognomonic of neurofibromatosis

Neurofinbromatosis - II

- autosomal dominant (abnormality is on chromosome 22)

- bilateral 8th cranial nerve tumors or

- unilateral 8th cranial nerve tumor or neurofibroma, menigioma, glioma, Schwannoma, or capsular cataract and a first degree relative with NF-2