Correction of bone marrow failure in dyskeratosis congenita by bone marrow transplantation

Bone Marrow Transplant. 1999 Feb;23(3):299-301. doi: 10.1038/sj.bmt.1701567.

Abstract

Dyskeratosis congenita is recognized by its dermal lesions and constitutional aplastic anemia in some cases. We report successful allogeneic bone marrow transplantation in two siblings with this disease from their sister, and their long term follow-up. We used reduced doses of cyclophosphamide and busulfan for conditioning instead of total body irradiation. Also, we report late adverse effects of transplantation which are not distinguishable from the natural course of disease.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Aplastic / etiology
  • Anemia, Aplastic / therapy*
  • Bone Marrow Transplantation* / adverse effects
  • Busulfan
  • Chronic Disease
  • Cyclophosphamide
  • Diagnosis, Differential
  • Disease Progression
  • Dyskeratosis Congenita / complications*
  • Dyskeratosis Congenita / genetics
  • Erythema / etiology
  • Esophageal Stenosis / etiology
  • Female
  • Follow-Up Studies
  • Graft vs Host Disease / diagnosis
  • Graft vs Host Disease / etiology
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Male
  • Nuclear Family
  • Tissue Donors
  • Transplantation Conditioning
  • Transplantation, Homologous

Substances

  • Immunosuppressive Agents
  • Cyclophosphamide
  • Busulfan