History:

von Recklinghausen's disease or neurofibromatosis is an autosomal dominant neurogenetic disorder that can involve almost any organ system especially the bone, the nervous system, soft tissue, and the skin. Two major subtypes exist: neurofibromatosis 1 (NF-1), which is the most common subtype and is referred to as peripheral NF, and neurofibromatosis 2 (NF-2), which is referred to as central NF.  Clinical manifestations of NF increase over time with supervening neurologic problems and malignancy development. 

Diagnostic criteria for NF-1 (The diagnostic criteria are met if 2 or more of the features listed are present.)

1. Six or more café au lait macules larger than 5 mm in greatest diameter in prepubertal individuals and those larger than 15 mm in greatest diameter in postpubertal individuals
2. Two or more neurofibromas of any type or 1 plexiform neurofibroma
3. Freckling in the axillary or inguinal regions
4. Optic glioma
5. Two or more Lisch nodules (iris hamartomas)
6. A distinctive osseous lesion, such as sphenoid dysplasia or thinning of the long bone cortex, with or without pseudoarthrosis
7. A first-degree relative with NF-1 according to the above criteria

Diagnosis criteria for NF-2 (The criteria are met if condition 1 or 2 is present.)

1. Bilateral masses of the eighth cranial nerve seen with appropriate imaging techniques (eg, CT, MRI)
2. A first-degree relative with NF-2 and either (a) a unilateral mass of the eighth cranial nerve or (b) 2 of the following: neurofibroma, meningioma, glioma, schwannoma, or juvenile posterior subcapsular opacity