Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome is a rare autosomal recessive inherited disease characterized by oculocutaneous albinism, reduced platelet function, pulmonary fibrosis and granulomatous colitis; renal failure is less common, but possible.This pathology is caused by mutations of genes coding for proteins involved in the formation / function of lysosome-related cell organelles (LORs), present in certain cell types such as melanocytes, pigmented epithelial cells, platelets and some classes of lymphocytes. LORs are similar to lysosomes, organelles specializing in the digestion of cellular debris and foreign particles.Therefore, the specific phenotypes linked to this condition derive from the altered cell type: the predisposition to bleeding is due to the lack of dense granules, which prevents platelets from aggregating; albinism, characterized by very light skin, hair and eyes (a condition that predisposes to a greater risk of skin cancer) is linked to defects in melanosomes, while pulmonary fib