Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies

F Hermansky, P Pudlak - Blood, 1959 - cir.nii.ac.jp
F Hermansky, P Pudlak
Blood, 1959cir.nii.ac.jp
抄録< jats: title> Abstract</jats: title>< jats: p> 1. A description is given of two unrelated
albinos with hemorrhagic diathesis and peculiar, pigmented reticular cells in the bone
marrow.</jats: p>< jats: p> 2. On examining hemostasis, the only consistent abnormal
laboratory finding was a prolonged bleeding time, so that the hemorrhagic disorder fell into
the group of so-called pseudohemophilias.</jats: p>< jats: p> 3. Unusual reticuloendothelial
cells in the bone marrow were packed with blackish or greenish blue granules or particles …
抄録
< jats: title> Abstract< jats: p> 1. A description is given of two unrelated albinos with hemorrhagic diathesis and peculiar, pigmented reticular cells in the bone marrow.< jats: p> 2. On examining hemostasis, the only consistent abnormal laboratory finding was a prolonged bleeding time, so that the hemorrhagic disorder fell into the group of so-called pseudohemophilias.< jats: p> 3. Unusual reticuloendothelial cells in the bone marrow were packed with blackish or greenish blue granules or particles. According to the histochemical study, the substance in the cytoplasm was probably of a lipid nature. These cells could not be identified with similar cells of this kind which have so far been described.< jats: p> 4. The combination of the above described congenital abnormalities (albinism, pseudohemophilia and unusual pigmented macrophages in the bone marrow) in two unrelated patients suggests that a common syndrome is present.
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