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neurofibromatosis, type 1 |
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neurofibromatosis, type 1 Von Recklinghausen disease An AD condition affecting ± 100,000–US, due to a mutation of a gene on chromosome 17
Neurofibromatosis, type 1 diagnosis–2+ of following
6 or more 'cafe-au-lait' macules > 5 mm in greatest diameter in a prepubertal, or > 15 mm in greatest diameter in post-pubertal Pts
2 or more histologically-confirmed neurofibromas–or one plexiform neurofibroma
Freckling in the axillary or inguinal regions
Optic glioma
2 Lisch nodules–iris hamartomas, the most common feature of NF1 in adults
Distinct bone lesions, eg sphenoid dysplasia, cortical thinning of long bones, pseudoarthrosis
The person has a 1st-degree relative with NF1
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