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 diseaseSee also: neurofibromatosis

单词	type 1 neurofibromatosis
释义	DictionarySeeneurofibromatosisEncyclopediaSeeNeurofibromatosis type 1 neurofibromatosis 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 diseaseSee also: neurofibromatosis
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