Neurofibromatos..

Neurofibromatosis (NF) type I (NF-I), also called von Recklinghausen disease, is a rare genetic disorder characterized by the development of multiple neurofibromas of the nerves and skin. The presence of café-au-lait spots on the skin of the trunk and other regions, as well as freckling, particularly in the axillary region and in the inguinal area is characteristic of this medical condition. Often evident by age 1 year, the café-au-lait spots tend to increase in size and number over time. At birth or early childhood, plexiform neurofibromas may be present. Benign tumor-like nodules of the colored regions of the eyes (Lisch nodules) may be present. Other features include macrocephaly, seizures, scoliosis, and bowing of the lower legs.

###### Neurofibromatosis MRI

Lumbar neurofibroma with local destruction and compression of the spinal cord in a patient with neurofibromatosis.

###### Plexiform neurofibroma

Diffuse plexiform neurofibroma with hyperpigmentation on the foot of a 12-year-old boy.

###### Plexiform neurofibroma

Big café-au-lait spot in an 8-year-old boy with neurofibromatosis.

###### Plexiform neurofibroma

Axillary freckling in a young woman with neurofibromatosis.

Type I: Neurofibromatosis von Recklinghausen; Fibromatosis Molluscum Multiplex; Elephantiasis Neuromatoses.

Neurofibromatosis is more a spectrum of disorders classified as follows:

• NF-I, or peripheral NF, is best known as von Recklinghausen neurofibromatosis (VRNF).
• NF-II, or central NF, is bilateral acoustic neuroma NF (BANF).
• NF-III appears to combine at least some features of types I and II.
• NF-IV also represents a heterogeneous category (Lisch nodules in the iris are absent).
• NF-V, or segmental NF, is restricted in its involvement of the body.
• NF-VI manifests primarily as café-au-lait spots without neurofibromas.
• NF-VII is a late-onset variety.
• NF-NOS represents forms of NF that do not appear to fit into categories I to VII.

In a review article published in JAMA in 1997, Gutmann et al. seem to categorize forms other than NF-I and NF-II as mosaic NF. These individuals may require more detailed counseling than patients with the usual presentation.

Approximately 1:3000 in the general population. One million patients estimated in 1987 worldwide. NF-I = 1:4000, NF-II = 1:50,000 in the general population.

Usually autosomal dominant but heterogenic (half of probands represent new mutations). The NF-I defect is on chromosome 17q11.2, and NF-II is caused by a change in the long arm of chromosome 22. NF-I gene produces neurofibromin, which is considered a ...

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