1 in 3000 births
AD with high penetrance, 50% new mutations
Advanced paternal age (more than 35) is a risk factor
Mesodermal dysplasia
Chr-17
Triad of Café-au-lait spots (90%), skeletal deformity and mental deficiency
Axillary or inguinal freckling, optic glioma, Lisch nodules (iris hamartomas)
Bone lesions: (25-40%)
Facial/ orbital/ sphenoid dysplasia
Pseudarthrosis, tibia is common
Scoliosis, Kyphosis
Lambdoid suture defects, usually left side
Periosteal reaction
Multiple nonossifying fibromas or fibroxanthomas
Ribbon ribs
Posterior scalloping of the vertebrae due to dural ectasia
Neural lesions:
All three types of neurofibromas - localized, diffuse and plexiform - are associated
Localized neurofibroma is most common type, plexiform is pathgnomonic (may cause elephantiasis neuromatosa)
Malignant transformation 2-30%
Treatment:
Often non-surgical
References:
Murphey MD et al. Imaging of Musculoskeletal Neurogenic Tumors: Radiologic-Pathologic Correlation . Radiographics. 1999;19:1253-1280
