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.
A recent retrospective analysis on PHEO resection concluded that NF-1 patients had significantly smaller adrenal tumors (median tumor dimension, 2.75 cm vs.
Microvascular retinal abnormalities, such as corkscrew configuration, have been found in patients with NF-1. (12) Retinal tumours such as astrocytic hamartoma, combined hamartoma of the retinal pigment epithelium (RPE) and retina, and retinal capillary haemangioma can rarely affect people with NF-1.
However, a recent study, (16) which evaluated the presence of glaucoma associated with ocular globe enlargement in children with NF-1, reported an increased prevalence.
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.
A plexiform neurofibroma is almost exclusively seen in NF-1, and it must be ruled out by pathology.
Plexiform neurofibromas are seen almost exclusively in NF-1. It is critical to identify plexiform features on pathology because patients with NF-1 and plexiform neurofibromas have a 10 to 15% risk of malignant transformation.