neurofibromatosis, type 1

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  

McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.