Which of the following is the MOST common skeletal manifestation in Type-1 Neurofibromatosis?
Von Recklinghausen's Disease or NF-1 - skeletal manifestations Scoliosis is the most common skeletal manifestation of NF-1, affecting 10%-30% of patients. More Info: There are two other bony lesions distinctive enough to be included in the diagnostic criteria for NF-1. 1. Dysplasia of the wing of the sphenoid bone, results in poor formation of the wall and/or floor of the orbit. This leads to proptosis (from herniation of meninges or brain into the orbit) or enophthalmos. 2. Dysplasia of a long bone, characterized by congenital thinning and bowing, affects approximately 2% of children with NF-1. Although the tibia is most commonly affected, the femur, humerus and other long bones may also be involved. Failure of primary union following a fracture results in a "false joint" or pseudahrosis. Ref: Listernick R., Charrow J. (2012). Chapter 141. The Neurofibromatoses. In L.A. Goldsmith, S.I. Katz, B.A. Gilchrest, A.S. Paller, D.J. Leffell, N.A. Dallas (Eds), Fitzpatrick's Dermatology in General Medicine, 8e.
Coical thinning of long bones
Pseudoahrosis
Sphenoid dysplasia
Scoliosis