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Related to Neurofibromatosis: Neurofibromatosis Type 2, Neurofibromatosis Type 1


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 ?
Which of the following statements regarding type 1 neurofibromatosis (NF-1) is TRUE?
Therefore, we advocate capsule endoscopy (CE) as a screening method to evaluate for gastrointestinal stromal tumors in neurofibromatosis.
Whole spine magnetic resonance imaging in patients with neurofibromatosis type 1 and spinal deformity.
Since the very first National Doodle Day in 2004 over pounds 185,000 has been raised to help support the work of two charities, Epilepsy Action and the Neurofibromatosis Association.
Neurofibromatosis is not a single entity but actually a group of heterogeneous diseases.
Neurofibromatosis 1 (NF1) is one of the most common dominantly inherited genetic disorders, affecting approximately 1 in 3,000 people (Lammert, Friedman, Kluwe, & Mautner, 2005; Rasmussen & Friedman, 2000).
National Institutes of Health Consensus Development Conference Statement on Neurofibromatosis.
Suspecting neurofibromatosis 1 (NF1), multiple Baylor physicians inquired about a history of this disease, and he denied any previous diagnosis or family history.
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by diverse cutaneous, neurological, skeletal, and neoplastic manifestations with no standard drug treatment options available.
The claims describe using recombinant reoviruses for the treatment of Ral-mediated neoplasms and non-cancer cellular proliferative diseases such as neurofibromatosis.