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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.



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 ?
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.
When they are not associated with NF-1, they are usually solitary.
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.