BACKGROUND: Dyskeratosis congenita (DC) is characterized by the clinical triad 
of reticular skin pigmentation, oral leukoplakia, and nail dystrophy associated 
with bone marrow failure (BMF) and an high risk to develop cancer and pulmonary 
complications. The only curative treatment for patients with DC and BMF is stem 
cell transplantation. Due to the rarity of the disease, the best transplant 
procedure is not yet known. The use of myeloablative procedures has been 
associated with high mortality. In the last 2 decades, encouraging results have 
been obtained with nonmyeloablative procedures. Heavily transfused patients have 
an additional risk of graft failure.
CASE REPORT: Herein we have reported a 4-year-old boy with DC and severe BMF at 
the time of transplantation, who had been transfused with nonleucodepleted blood 
products for 18 months. He experienced a favorable outcome after 
nonmyeloablative transplant conditioning using low-dose cyclophosphamide (40 
mg/kg), fludarabine (180 mg/kg), and rabbit antithymocyte globulin (10 mg/kg). 
The patient received a peripheral stem cell graft containing 7.52 × 10(6) 
CD34/kg from an HLA identical sister. Graft versus host disease (GVHD) 
prophylaxis consisted of a short-term combination of cyclosporine and 
methotrexate.
RESULTS: We observed rapid neutrophil engraftment on day +21 and for platelets 
on day +40. No early or late complications were recorded during 15 months 
follow-up. The patient developed only grade I skin GVHD. On day +30, chimerism 
assay showed 100% donor cells.
CONCLUSION: Long-term follow-up is essential to establish the efficacy and 
safety of this procedure.