Recklinghausenova nemoc - 1. R. neurofibromatóza - dědičné onemocnění s mnohočetnými nádorky na kůži a v nervovém systému. Na kůži jsou četné drobné vazivové nádory (fibromy) a skvrny (typicky barvy bílé kávy). V různých místech se objevují nádory z nervových obalů (neurinomy, neurofibromy). Při výraznějším postižení nervového systému těmito nádory vznikají komplikace (poruchy hybnosti, zraku, sluchu aj.). 2. forma kostního postižení při hyperparatyreóze, viz osteodystrofie. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )

An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Anotace

do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant

DUI

D009456 MeSH Prohlížeč

CUI

M0014710

Historická pozn.

1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991

Veřejná pozn.

1992; see NEUROFIBROMATOSIS 1966-91; for NEUROFIBROMATOSIS, PERIPHERAL, NF1 see NEUROFIBROMATOSIS 1989-1991