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 ?
Jain, "Does the presence of dystrophic features in patients with type 1 neurofibromatosis and spinal deformities increase the risk of surgery?
Type 1 neurofibromatosis is one of the most common phakomatoses encountered worldwide.
In addition to an association with low birth weight, there are several linked genetic diseases including overgrowth syndromes such as Beckwith-Wiedemann syndrome, chromosomally linked conditions (trisomies 2, 8 and 20) and X-linked Simpson-Golabi-Behmel syndrome, type 1 glycogen storage diseases, Li-Fraumeni syndrome, familial adenomatous polyposis (FAP) (3-6) and type 1 neurofibromatosis.
Ovarian neurofibroma: a rare visceral occurrence of type 1 neurofibromatosis and an unusual cause of chronic pelvic pain.
Which of the following statements regarding type 1 neurofibromatosis (NF-1) is TRUE?