Neurofibromatosis 2
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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.
This video in 30 seconds
This video covers neurofibromatosis type 2 (NF-2), an autosomal-dominant disorder. It explains that hypopigmented spots, described as cafe-au-lait spots that are usually hypopigmented in NF-2 unlike the hyperpigmented spots in NF-1, combined with a family history of bilateral deafness strongly suggest NF-2, and that the deafness is caused by bilateral acoustic neuromas, a characteristic neurologic manifestation of the syndrome.
Key points
- Describes NF-2 as an autosomal-dominant disorder
- Covers hypopigmented cafe-au-lait spots and how they differ from NF-1
- Covers family history of bilateral deafness as a suggestive feature
- Attributes the deafness to bilateral acoustic neuromas
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