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NIH Diagnostic Criteria for Neurofibromatosis Print E-mail
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Written by G. Firman MD   
Wednesday, 11 March 2009 06:58


Neurofibromatosis 1 and neurofibromatosis 2 are autosomal dominant genetic disorders in which affected individuals develop both benign and malignant tumors at an increased frequency.



Diagnosis of Neurofibromatosis Type 1 (NF1)

  1. Six or more café au lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals

  2. Two or more neurofibromas of any type or one plexiform neurofibroma

  3. Freckling in the axillary or inguinal regions (Crowe´s sign)

  4. Optic glioma

  5. Two or more Lisch nodules (iris harmartomas)

  6. A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis

  7. A first-degree relative (parent, sibling, or offspring) with NF1 by the above criteria

The criteria are met in an individual if two or more of the features listed are present.


Diagnosis of Neurofibromatosis Type 2 (NF2)

  1. Bilateral masses of the eighth cranial nerve seen with appropriate imaging techniques (e.g., CT or MRI)

  2. A first-degree with NF2 and either:

a) Unilaterial mass of the eighth cranial nerve, or

b) Two of the following:

· Neurofibroma

· Meningioma

· Glioma

· Schwannoma

· Juvenile posterior subcapsular lenticular opacity


The criteria are met by an individual who satisfies condition 1 or 2.




  1. Stumpf DA, Alksne JF, Annegers JF, Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988; 45:575-578

  2. Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997 Jul 2;278(1):51-7. [Medline]


Created: July 05, 2005

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