title: Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita: report of a case.
abstract: 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.
authors.affiliation: Dipartimento di Scienze Pediatriche, Universita di Pavia, IRCCS Policlinico San Matteo, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Comoli
authors.forename: Sabrina
authors.initials: S
authors.lastname: Basso
authors.forename: Guan-Cheng
authors.initials: GC
authors.lastname: Huanga
mesh_terms: D000328:Adult; D000741:Anemia, Aplastic / Q000209:etiology / Q000276:immunology / Q000628:therapy*; D000961:Antilymphocyte Serum / Q000627:therapeutic use*; D019871:Dyskeratosis Congenita / Q000150:complications / Q000276:immunology / Q000628:therapy*; D017809:Fatal Outcome; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D008171:Lung Diseases / Q000209:etiology; D008297:Male; D016896:Treatment Outcome
chemical_list: D000961:Antilymphocyte Serum; D007166:Immunosuppressive Agents