Approaches to treating NF1 tibial pseudarthrosis: Consensus from the children's tumor foundation NF1 bone abnormalities consortium

David A. Stevenson, David Little, Linlea Armstrong, Alvin H. Crawford, Deborah Eastwood, Jan M. Friedman, Tiziana Greggi, Gloria Gutierrez, Kim Hunter-Schaedle, David L. Kendler, Mateusz Kolanczyk, Fergal Monsell, Matthew Oetgen, B. Stephens Richards, Aaron Schindeler, Elizabeth K. Schorry, David Wilkes, David H. Viskochil, Feng Chun Yang, Florent Elefteriou

Research output: Contribution to journalArticle

31 Scopus citations

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. LEVEL OF EVIDENCE: Level V, expert opinion.

Original languageEnglish (US)
Pages (from-to)269-275
Number of pages7
JournalJournal of Pediatric Orthopaedics
Volume33
Issue number3
DOIs
StatePublished - Apr 1 2013
Externally publishedYes

Keywords

  • Bone
  • Neurofibromatosis
  • Pseudarthrosis
  • Tibia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Orthopedics and Sports Medicine

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    Stevenson, D. A., Little, D., Armstrong, L., Crawford, A. H., Eastwood, D., Friedman, J. M., Greggi, T., Gutierrez, G., Hunter-Schaedle, K., Kendler, D. L., Kolanczyk, M., Monsell, F., Oetgen, M., Richards, B. S., Schindeler, A., Schorry, E. K., Wilkes, D., Viskochil, D. H., Yang, F. C., & Elefteriou, F. (2013). Approaches to treating NF1 tibial pseudarthrosis: Consensus from the children's tumor foundation NF1 bone abnormalities consortium. Journal of Pediatric Orthopaedics, 33(3), 269-275. https://doi.org/10.1097/BPO.0b013e31828121b8