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)
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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
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Two or more neurofibromas of any type or one plexiform neurofibroma
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Freckling in the axillary or inguinal regions (Crowe´s sign)
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Optic glioma
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Two or more Lisch nodules (iris harmartomas)
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A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis
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A first-degree relative (parent, sibling, or offspring) with NF1 by the above criteria
Diagnosis of Neurofibromatosis Type 2 (NF2)
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Bilateral masses of the eighth cranial nerve seen with appropriate imaging techniques (e.g., CT or MRI)
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A first-degree with NF2 and either:
a) Unilateral 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.
References:
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Stumpf DA, Alksne JF, Annegers JF, Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988; 45:575-578
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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
