Neurofibromatosis

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.

Comparison of the background, needs, and expectations for genetic counseling of adults with experience with Down syndrome, Marfan syndrome, and neurofibromatosis

“…Neurofibromatosis 2 (NF2) is also an autosomal dominant condition. It affects approximately one in 25,000 individuals and is characterized by bilateral vestibular schwannomas, café au‐lait macules, cutaneous and subcutaneous schwannomas, cranial nerve, peripheral nerve and spinal schwannomas, cranial and spinal meningiomas, and cataracts [Gerber et al, 2009; Ferner, 2010]. Cutaneous features are typically less prominent in NF2 than NF1.…”

A Proof-of-Concept Assessment of the Safety and Efficacy of Intralesional Diclofenac in the Treatment of Cutaneous Neurofibromas

“…Cutaneous neurofibromas can occur anywhere on the body, presenting a wide variation in their size, numbers and shape [10]- [12]. They occur in more than 95% of patients and are composed of all cell types found in the peripheral nerves [13]- [15]. Generally, they are dome-shaped, soft, fleshy and skin color tumors [10].…”

“…Interestingly, there were no reports of gastrointestinal side effects which are the most commonly reported effects associated with systemic diclofenac usage [13]. It may be that given the relatively small doses of diclofenac administered, systemic effects were kept to a minimum.…”

Perioperative Care of the Patient With Acoustic Neuroma

“…Acoustic neuromas also can result from the genetic disorder neurofibromatosis type 2 (NF2), a rare autosomal genetic disorder involving mutations in the NF2 genes on chromosome 22 . Patients with NF2 develop bilateral acoustic neuromas usually by the age of 30 years .…”