Neurofibromatosis


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Related to Neurofibromatosis: Neurofibromatosis Type 2, Neurofibromatosis Type 1

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 ?
Although neurofibromatosis is a common genetic disorder, most people are not aware that one in 2,500 people are born with it, making it more common than cystic fibrosis, hereditary muscular dystrophy, Huntington's disease and Tay Sachs combined.
Neurofibromatosis type 1-related gastrointestinal stromal tumors: A special reference to loss of heterozygosity at 14q and 22q.
El primer estudio que se publico sobre los aspectos psicologicos de la NF1 en personas adultas, fue realizado en el ano 1995, bajo el titulo: "Psychological aspects of von Recklinghausen neurofibromatosis (NF1)".
Thomas et al., "Guidelines for the diagnosis and management of individuals with neurofibromatosis," Journal of Medical Genetics, vol.
Radcliffe, "Neurofibromatosis: Clinical presentations and anaesthetic implications," British Journal of Anaesthesia, vol.
TABLE Differential diagnosis for dermatomally distributed nodules (4) Neoplasms Benign Syringocystadenoma papilliferum, trichoepithelioma, cutaneous schwannoma Malignant Basal cell carcinoma, cutaneous metastases, lymphoma, plasmacytoma, squamous cell carcinoma Other mucocutaneous Granuloma annulare, neurofibromatosis type 1, conditions pseudolymphoma, rheumatoid nodules, sarcoidosis, xanthomas Adapted with permission from: Hager CM, Cohen PR, Tschen JA.
T1 Breast Cancer Associated with Von Recklinghausen's Neurofibromatosis. Breast Cancer 1999; 6: 227-230.
Neurofibromatosis type 1 is an autosomal dominant disease, with NF1 being the most common disease that affects a wide range of physiological systems (2).
She said: "My dad was a very private man, he never spoke about his neurofibromatosis, but I think he felt very guilty about passing it on to me.
(Bilateral Optic Nerve Glioma in Type 1 Neurofibromatosis: A case report).