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 ?
Intracranial Schwannomas most frequently affect 8th nerve complex and bilateral tumours are the hallmark of NF-2.
The association between cataract and NF has been reported in those patients affected by NF-2.
The NF-2 exploration well, located in approximately 323 metres of water, is operated by Statoil Petroleum AS (20%) using the Songa Delta drilling rig, with co-venturers ENGIE E&P Norge AS (40%), DEA E&P Norge AS (30%) and VNG Norge AS (2.