Dyskeratosis congenita and Fanconi’s anemia share impressive features in common: primary refractory pancytopenia; bone marrow hyperplasia (curtailed phase) and megaloblastosis, eventuating in severe hypoplasia of the marrow; cutaneous melanotic dyschromia; lacrimal duct blockage and a host of other minor abnormalities, in addition to mental retardation and generalized impairment of growth. Evaluation of two brothers with dyskeratosis congenita, and review of previous reports, indicate the following to be more prominent in dyskeratosis congenita than in Fanconi’s anemia: cutaneous telangiectatic erythema and atrophy; exocrine, ungual, and dental dysplasias; mucosal leukoplakia, carcinomatosis, and stenosis; and esophageal diverticula. Prominent in Fanconi’s anemia but not dyskeratosis congenita are the renal and particular skeletal anomalies. Possible transition cases are discussed. The proband studied suffered from progressive refractory pancytopenia, fevers, abdominal pains, malabsorption syndrome, and finally subarachnoid hemorrhage. Cultured leukocytes had normal-appearing karyotypes. The proband’s brother had cutaneous alterations of dyskeratosis congenita, but a hemogram revealed only mild thrombocytopenia and macrocytosis. Both brothers had elevated levels of hemoglobin F, leukocyte alkaline phosphatase, serum IgG, and thyroglobulin antibody, and both had reduced levels of serum IgM and vitamin B12.
Twenty-two patients with primary myelofibrosis and myeloid metaplasia (MMM) and ten patients with MMM secondary to carcinoma were studied for the relationship of MMM to "PNH-like defect." Laboratory measurements included Ham’s test, sucrose hemolysis test, sugar-water test, leukocyte alkaline phosphatase, haptoglobin, and urinary hemosiderin. The defects of the red cell membrane, as evidenced by acid and sucrose lysis tests, were limited to those with primary MMM and occurred in 54% of the cases. Another 10% showed decreased haptoglobin level, positive sugar-water test, and/or hemosiderinuria suggestive of the syndrome.
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