/noor'oh fuy broh'meuh toh"sis, nyoor'-/, n. Pathol.
a dominantly inherited genetic disorder characterized by flat brown patches on the skin, neurofibromas of the skin and internal organs, and in some cases skeletal deformity.
[1895-1900; < NL neurofibromat-, s. of neurofibroma NEUROFIBROMA + -OSIS]

* * *

      either of two hereditary disorders characterized by distinctive skin lesions and by benign, progressively enlarging tumours (tumour) of the nervous system. Neurofibromatosis type 1, also known as von Recklinghausen's disease, is much the more common of the two disorders and is present in about one of every 3,000 live births. This type is characterized by the presence of café-au-lait (pale brown) spots on the skin and the formation of numerous benign soft tumours arising from the abnormal growth of nerves. The café-au-lait spots may be present at birth or infancy, and the neurofibromas and other tumours appear in late childhood or early adulthood; the latter can sometimes result in grossly disfiguring effects owing to their large size. The course of the disease is progressive in most cases. Neurofibromatosis type 2 is a much rarer inherited disease marked by tumours of the auditory canal in the ear and by small numbers of café-au-lait spots.

      Neurofibromatosis 1 is passed on as an autosomal dominant trait, and the child of someone with the disease has a 50-percent chance of developing it. About half of all cases of the disorder, however, result from genetic mutation at conception rather than from familial inheritance. In 1990 scientists identified a gene on human chromosome 17 that is responsible for neurofibromatosis type 1; a defective version of this gene allows nerve cells to grow without restraint, resulting in neurofibromas.

* * *

Universalium. 2010.

Игры ⚽ Нужно сделать НИР?

Look at other dictionaries:

  • Neurofibromatosis — Classification and external resources Back of an elderly woman with neurofibromatosis ICD 10 Q …   Wikipedia

  • neurofibromatosis — f. neurol. Facomatosis hereditaria que se transmite de forma autosómica dominante y que se caracteriza por la aparición de manchas cutáneas múltiples, además de neurinomas, ganglioneuromas y neurofibromas. La formación de los tumores u otras… …   Diccionario médico

  • Neurofibromatosis — Este artículo o sección necesita referencias que aparezcan en una publicación acreditada, como revistas especializadas, monografías, prensa diaria o páginas de Internet fidedignas. Puedes añadirlas así o avisar al a …   Wikipedia Español

  • Neurofibromatosis — ► sustantivo femenino MEDICINA Enfermedad caracterizada por la formación de tumores fibrosos en la piel y en los nervios. IRREG. plural neurofibromatosis * * * Las neurofibromatosis son trastornos genéticos del sistema nervioso que afectan… …   Enciclopedia Universal

  • Neurofibromatosis — Hereditary disorder characterized by cafe au lait (light brown) coffee with milk spots on the skin, and a tendency to develop large tumors on the nerves, skin, and internal organs. Neurofibromatosis may include deformation of the bones and… …   Medical dictionary

  • neurofibromatosis — Tumours of neuronal sheath; the most common genetic disease. Type 1 neurofibromatosis is associated with the the von Recklinghausen Neurofibromatosis locus that encodes the NF 1 protein, a GTPase activating protein which interacts with the ras… …   Dictionary of molecular biology

  • neurofibromatosis 2 — (NF2) an autosomal dominant disorder due to mutation in the NF2 gene (locus: 22q12.2), which encodes the cytoskeletal protein merlin (also called neurofibromin 2), which acts as a tumor suppressor. It is characterized by usually bilateral… …   Medical dictionary

  • neurofibromatosis — n. either of two hereditary conditions inherited as autosomal dominant traits and characterized by benign tumours growing from the fibrous coverings of nerves (see neurofibroma). In neurofibromatosis type I (von Recklinghausen s disease) numerous …   The new mediacal dictionary

  • neurofibromatosis — Eng. Neurofibromatosis Ver enfermedad de Von Recklinghausen …   Diccionario de oftalmología

  • neurofibromatosis — /ˌnjuroʊˌfaɪbrəməˈtoʊsəs/ (say .nyoohroh.fuybruhmuh tohsuhs) noun → von Recklinghausen s disease of multiple neurofibromatosis …  

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”