ABSTRACT
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.
