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Review
. 2009 Mar 17;14(3):102-5.
doi: 10.1186/2047-783x-14-3-102.

Neurofibromatosis

P A Gerber  1 , A S Antal, N J Neumann, B Homey, C Matuschek, M Peiper, Wilfried Budach, E Bölke
Affiliations
Review

Neurofibromatosis

P A Gerber et al. Eur J Med Res. .

Abstract

Neurofibromatosis (NF) is one of the most common genetic disorders. Inherited in an autosomal dominant fashion, this phacomatosis is classified into two genetically distinct subtypes characterized by multiple cutaneous lesions and tumors of the peripheral and central nervous system. Neurofibromatosis type 1 (NF1), also referred to as Recklinghausen's disease, affects about 1 in 3500 individuals and presents with a variety of characteristic abnormalities of the skin and the peripheral nervous system. Neurofibromatosis type 2 (NF2), previously termed central neurofibromatosis, is much more rare occurring in less than 1 in 25 000 individuals. Often first clinical signs of NF2 become apparent in the late teens with a sudden loss of hearing due to the development of bi- or unilateral vestibular schwannomas. In addition NF2 patients may suffer from further nervous tissue tumors such as meningiomas or gliomas. This review summarizes the characteristic features of the two forms of NF and outlines commonalities and distinctions between NF1 and NF2.

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Figures

Figure 1
Figure 1
A 9-year old boy with NF 1 and multiple (n ≥ 6) café-au-lait macules.
Figure 2
Figure 2
Characteristic axillary freckling of a 51-year old woman with NF 1.
Figure 3
Figure 3
3a: Multiple neurofibromas with a maximum diameter of 4 cm on the back and gluteal region of a 46-year old male with NF1. 3b: A 6 cm in diameter measuring, disabling tumor in the gluteal region of a 51-year old woman with NF1.
Figure 4
Figure 4
A 63-year old man with a known history of NF2 presented with a progredient right-sided tinnitus and mild deafness. Magnetic resonance imaging showed a schwannoma of the vestibular portion (VS) of the right VIIIth cranial nerve.
See this image and copyright information in PMC

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