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Neurofibromatosis 2

3,557 विचारों • 01/17/24
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-Hypopigmented spots, in combination with a family history of bilateral deafness, strongly suggest neurofibromatosis type 2 (NF-2), an autosomal-dominant disorder. The spots described actually represent cafe-au-lait spots that are usually hypopigmented (unlike the hyperpigmented cafe-au-lait spots found in NF-1 ). Deafness is caused by bilateral acoustic neuromas, a characteristic neurologic manifestation of the syndrome.

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