Hermansky-Pudlak/Chediak-Higashi syndromes

摘要

The common denominator in both of these conditions is albinism. Hermansky-Pudlak syndrome affects the platelets and patients have a tendency to bleed. Chediak-Higashi syndrome affects the leukocytes, results in immune disorders and causes intracytoplasmic inclusions. These latter patients are prone to malignant lymphomas as the immune system is involved. Hermansky-Pudlak symptoms occur due to defects in the melanosomes and the disease affects the lysosomal organelles in the cells, especially the platelet-dense granules. For this reason these patients have a haemorrhagic tendency.