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  
References in periodicals archive ?
Clinical diagnosis required the presence of at least 2 of 7 criteria to confirm the presence of neurofibromatosis, type 1. The 7 clinical criteria used to diagnose NF1 are six or more cafe-au-lait spots, Axillary or inguinal freckles, two or more typical neurofibromas or one plexiform neurofibroma, Optic nerve glioma, two or more iris hamartomas (Lisch nodules), Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis and first-degree relative with NF1 patients.