Dyskeratosis congenita (DC) is a very rare inherited disorder characterized by skin pigmentation, nail dystrophy, and mucosal leukoplakia. It is also associated with a variety of noncutaneous abnormalities, such as fatal pulmonary complications, malignancy, and bone marrow failure. We report the case of a 32-year-old man with DC associated with severe aplastic anemia (SAA).The traditional treatment of DC-associated SAA is allogeneic hematopoietic stem cell transplantation (HSCT). However, in this case, an HLA-matched donor was not available. Therefore our patient was given intensive immunosuppressive therapy with antilymphocyte globulin (ALG) and cyclosporine A (CsA). The hemogram findings improved after the treatment, but the patient died of pulmonary complications after being in stable condition for 6 months. The results support the possible use of intensive immunosuppression with ALG and CsA for DC-associated SAA as an alternative treatment for patients who are not eligible for HSCT.
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Comoli, P., Basso, S. & Huang, G. Intensive Immunosuppression Therapy for Aplastic Anemia Associated with Dyskeratosis Congenita: Report of a Case. Int J Hematol 82, 35–37 (2005). https://doi.org/10.1532/IJH97.A10416
- Dyskeratosis congenita
- Aplastic anemia
- Antilymphocyte globulin
- Immunosuppression therapy