type 1 neurofibromatosis


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Related to type 1 neurofibromatosis: von Recklinghausen's disease, NF-1

type 1 neurofibromatosis

Abbreviation: NF-1
An autosomal dominant disease that affects about 1 in 3000 people. Its clinical hallmarks include hyperpigmented macules on the skin (café au lait spots) and multiple cutaneous and subcutaneous tumors that appear in late childhood (there may be only a few or thousands). When the tumors are pressed, they pass through a small opening in the skin, leaving the space previously occupied vacant. This characteristic, called buttonholing, helps to distinguish these tumors from lipomas. In about 2% to 5% of cases, the tumors become malignant. No cure has yet been found. Tumors that give rise to symptoms or those that become malignant should be excised; however, if the tumor is on a vital nerve, excision may be impossible. Radiation therapy and surgery are of benefit. Synonym: Recklinghausen disease
References in periodicals archive ?
Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. Clin Genet 1996;49:59-64.
Renjitkumar, "Teaching Neuro/mages: rib penciling and intraspinal dislocation of rib heads in type 1 neurofibromatosis," Neurology, vol.
Type 1 neurofibromatosis is one of the most common phakomatoses encountered worldwide.
Williams, "Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen's disease)," Histopathology, vol.19, no.1, pp.1-11,1991.
Consecutive spontaneous rupture of the lower pole renal artery and main renal artery due to type 1 neurofibromatosis. Urology 2011;77:1339-40.
Ovarian neurofibroma: a rare visceral occurrence of type 1 neurofibromatosis and an unusual cause of chronic pelvic pain.
Since 1970, ampullary carcinoid tumors had been described in association with type 1 neurofibromatosis. (16-19,24,27,28) Later, a variety of endocrine syndromes including the Zollinger-Ellison syndrome, carcinoid syndrome, multiple endocrine neoplasia type 1 syndrome, and Cushing syndrome were reported in association with ampullary carcinoids.
Aberrant regulation of ras proteins in tumour cells from type 1 neurofibromatosis patients.