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Albinism Associated with Hemorrhagic Diathesis and Unusual Pigmented Reticular Cells in the Bone Marrow: Report of Two Cases with Histochemical Studies

F. HERMANSKY and P. PUDLAK

Abstract

1. A description is given of two unrelated albinos with hemorrhagic diathesis and peculiar, pigmented reticular cells in the bone marrow.

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.

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.

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.