title: Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium.
abstract: BACKGROUND
  Neurofibromatosis 1 (NF1) is an autosomal dominant disorder with various skeletal abnormalities occurring as part of a complex phenotype. Tibial dysplasia, which typically presents as anterolateral bowing of the leg with subsequent fracture and nonunion (pseudarthrosis), is a serious but infrequent osseous manifestation of NF1. Over the past several years, results from clinical and experimental studies have advanced our knowledge of the role of NF1 in bone. On the basis of current knowledge, we propose a number of concepts to consider as a theoretical approach to the optimal management of tibial pseudarthrosis.
  
  
  METHODS
  A literature review for both clinical treatment and preclinical models for tibial dysplasia in NF1 was performed. Concepts were discussed and developed by experts who participated in the Children's Tumor Foundation sponsored International Bone Abnormalities Consortium meeting in 2011.
  
  
  RESULTS
  Concepts for a theoretical approach to treating tibial pseudarthrosis include: bone fixation appropriate to achieve stability in any given case; debridement of the "fibrous pseudarthrosis tissue" between the bone segments associated with the pseudarthrosis; creating a healthy vascular bed for bone repair; promoting osteogenesis; controlling overactive bone resorption (catabolism); prevention of recurrence of the "fibrous pseudarthrosis tissue"; and achievement of long-term bone health to prevent recurrence.
  
  
  CONCLUSIONS
  Clinical trials are needed to assess effectiveness of the wide variation of surgical and pharmacologic approaches currently in practice for the treatment of tibial pseudarthrosis in NF1.
  
  
  METHODS
  Level V, expert opinion.
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA. david.stevenson@hsc.utah.edu
authors.forename: David A
authors.initials: DA
authors.lastname: Stevenson
authors.forename: David
authors.initials: D
authors.lastname: Little
authors.forename: Linlea
authors.initials: L
authors.lastname: Armstrong
authors.forename: Alvin H
authors.initials: AH
authors.lastname: Crawford
authors.forename: Deborah
authors.initials: D
authors.lastname: Eastwood
authors.forename: Jan M
authors.initials: JM
authors.lastname: Friedman
authors.forename: Tiziana
authors.initials: T
authors.lastname: Greggi
authors.forename: Gloria
authors.initials: G
authors.lastname: Gutierrez
authors.forename: Kim
authors.initials: K
authors.lastname: Hunter-Schaedle
authors.forename: David L
authors.initials: DL
authors.lastname: Kendler
authors.forename: Mateusz
authors.initials: M
authors.lastname: Kolanczyk
authors.forename: Fergal
authors.initials: F
authors.lastname: Monsell
authors.forename: Matthew
authors.initials: M
authors.lastname: Oetgen
authors.forename: B Stephens
authors.initials: BS
authors.lastname: Richards
authors.forename: Aaron
authors.initials: A
authors.lastname: Schindeler
authors.forename: Elizabeth K
authors.initials: EK
authors.lastname: Schorry
authors.forename: David
authors.initials: D
authors.lastname: Wilkes
authors.forename: David H
authors.initials: DH
authors.lastname: Viskochil
authors.forename: Feng-Chun
authors.initials: FC
authors.lastname: Yang
authors.forename: Florent
authors.initials: F
authors.lastname: Elefteriou
mesh_terms: D002648:Child; D006801:Humans; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000628:therapy*; D011542:Pseudarthrosis / Q000209:etiology*; D013978:Tibial Fractures / Q000209:etiology* / Q000628:therapy*