Difficult Management of a Femur Fracture in a Patient with Dyskeratosis Congenita: A Literature Review and Case Report

JBJS Case Connect. 2021 Apr 21;11(2):e20.00486. doi: 10.2106/JBJS.CC.20.00486.

Abstract

Case: A 14-year-old boy with dyskeratosis congenita (DKC), status-post unrelated bone marrow transplant (BMT), sustained a femoral shaft fracture. Despite immediate fixation with the widest possible titanium elastic nails, fixation construct rigidity was insufficient and malunion occurred with refracture 5 years later. Revision fixation with rigid intramedullary nailing has maintained position for 1 year, although callus formation remains meager.

Conclusion: This is the first article to detail fracture care for a DKC patient. Although BMT increases lifespan, patients seemingly remain skeletally frail. Rigid intramedullary fixation is optimally durable and appears hematopoietically safe. Long-term follow-up is recommended.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Bone Nails
  • Dyskeratosis Congenita* / complications
  • Femur
  • Fracture Fixation, Intramedullary*
  • Fracture Healing
  • Humans
  • Male