Dyskeratosis congenita: relationship to Fanconi's anemia.

摘要: Dyskeratosis congenita and Fanconi’s anemia share impressive features in common: primary refractory pancytopenia; bone marrow hyperplasia (curtailed phase) megaloblastosis, eventuating severe hypoplasia of the marrow; cutaneous melanotic dyschromia; lacrimal duct blockage a host other minor abnormalities, addition to mental retardation generalized impairment growth. Evaluation two brothers with dyskeratosis congenita, review previous reports, indicate following be more prominent than anemia: telangiectatic erythema atrophy; exocrine, ungual, dental dysplasias; mucosal leukoplakia, carcinomatosis, stenosis; esophageal diverticula. Prominent but not are renal particular skeletal anomalies. Possible transition cases discussed. The proband studied suffered from progressive pancytopenia, fevers, abdominal pains, malabsorption syndrome, finally subarachnoid hemorrhage. Cultured leukocytes had normal-appearing karyotypes. proband’s brother alterations hemogram revealed only mild thrombocytopenia macrocytosis. Both elevated levels hemoglobin F, leukocyte alkaline phosphatase, serum IgG, thyroglobulin antibody, both reduced IgM vitamin B12.