Neurofibromatosis

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neurofibromatosis

[¦nu̇r·ō·fī‚brō·mə′tō·səs]
(medicine)
A hereditary disease characterized by the presence of neurofibromas in the skin or along the pathway of peripheral nerves. Also known as fibroma molluscum; multiple neurofibroma; multiple neurofibromatosis; neurinomatosis; neuroblastomatosis; Smith-Recklinghausen's disease.

Neurofibromatosis

 

a disease characterized by multiple tumors of the nerve trunks. It is also called Recklinghausen’s disease after the German pathologist F. Recklinghausen (1833–1910), who first described the disease in 1882.

Neurofibromatosis usually arises in the nerves of the skin, bones, and endocrine glands. It is believed that neurofibromatosis occurs because of a disturbance in the development of the ectodermal germ layer in the embryo; however, the causes and developmental mechanisms of the disease have not been elucidated. Multiple soft tumors of various sizes appear on or within the skin. The tumors are covered with yellow to dark brown pigmentation spots of various sizes. Changes in the bone structure can arise in neurofibromatosis, and the spine can be deformed even to the point of curving. Neurofibromatosis may also affect the central nervous system; in such cases, physical and mental underdevelopment are sometimes observed.

References in periodicals archive ?
Neurofibromin (the protein encoded by NF-1 gene) is an important element in the heart development and is expressed in both endothelial and smooth muscle cells of blood vessels [10].
A study conducted on 48 consecutive NF-1 patients revealed that patients with NF-1 and PHEO presented decreased obesity parameters as compared to NF-1 patients.
Microvascular retinal abnormalities, such as corkscrew configuration, have been found in patients with NF-1.
Indeed, it has been reported that based on the known neurohistopathic aetiology of NF-1 and the neuro-ectodermal embryologic derivation of the iridocorneal angle, there is under-development of the angular region, in patients affected by NF-1, as confirmed by gonioscopic examination.
Seed stocks of NF-1 and NF-1 Profuse Ligule will be maintained by the Forage Biotechnology Group at The Noble Foundation, Ardmore, OK 73401.
Surgical removal is recommended for symptomatic patients and for those with NF-1.
Although our patient's circumstances did not satisfy the strict criteria for plexiform neurofibroma, our index of suspicion remained high for NF-1 given the presence of multiple nodules and their atypical location.