Neurofibromatosis Information


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Home :: Diseases :: Neurofibromatosis

Neurofibromatosis Information - symptom, cause, treatment of Neurofibromatosis

Neurofibromatosis Information

Neurofibromatosis may occur either sporadically or on a familial basis with autosomal dominant inheritance. Two distinct forms are recognized: Type 1 (Recklinghausen's disease) is characterized by multiple hyperpigmented macules and neurofibromas and type 2 by eighth nerve tumors, often accompanied by other intracranial or intraspinal tumors. Among familial cases, the gene for type 1 is located on chromosome 17 and that for type 2 on chromosome 22.

Neurologic presentation is usually with symptoms and signs of tumor. Multiple neurofibromas characteristically are present and may involve spinal or cranial nerves, especially the eighth nerve. Examination of the superficial cutaneous nerves usually reveals palpable mobile nodules. In some cases, there is an associated marked overgrowth of subcutaneous tissues (plexiform neuromas), sometimes with an underlying bony abnormality. Associated cutaneous lesions include axillary freckling and patches of cutaneous pigmentation (café au lait spots). Malignant degeneration of neurofibromas occasionally occurs and may lead to peripheral sarcomas. Meningiomas, gliomas (especially optic nerve gliomas), bone cysts, pheochromocytomas, scoliosis, and obstructive hydrocephalus may also occur.

It may be possible to correct disfigurement by plastic surgery. Intraspinal or intracranial tumors and tumors of peripheral nerves should be treated surgically if they are producing symptoms.


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