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Introdução: a síndrome de hermansky – pudlak é uma doença genética caracterizada por albinismo oculocutâneo, disfunção plaquetária, e em alguns casos também há colite, insuficiência renal fibrose pulmonar. Apresentação do caso: paciente, 4 anos, buscou atendimento para investigação episódios frequentes gengivorragia, epistaxe hematomas nos membros inferiores. Discussão: o diagnóstico realizado ...

The Hermansky-Pudlak syndrome defines a group of genetic disorders characterized by defective lysosome-related organelles such as melanosomes and platelet dense bodies. Hermansky-Pudlak syndrome can be caused by mutations of at least four genes in humans and 15 genes in mice. One of these genes is mutated in the pallid mouse strain and encodes a novel protein named pallidin (L. Huang, Y. M. Kuo...

Four cases of albinism with haemorrhagic diathesis (Hermansky-Pudlak syndrome) are presented. The cases displayed wide phenotypic variation. Electroretinography was performed on all four patients and was found to be normal. One patient developed a cutaneous malignant melanoma.

Vesicle biogenesis machinery components such as coat proteins can interact with the actin cytoskeleton for cargo sorting into multiple pathways. It is unknown, however, whether these interactions are a general requirement for the diverse endosome traffic routes. In this study, we identify actin cytoskeleton regulators as previously unrecognized interactors of complexes associated with the Herma...

This article discusses the role of electron microscopy in diagnosis and study morphological changes that cause platelet structural abnormalities a variety congenital diseases. Morphological can be divided into cytoskeleton, alpha dense granules, membrane abnormalities. Our paper describes ultrastructural defects Wiskott–Aldrich syndrome, MYH9-associated syndromes, gray Hermansky–Pudlak Paris–Tr...

Hermansky-Pudlak Syndrome is a rare form of albinism, affecting approximately one in 500,000 to one in 1,000,000 non-Hispanic individuals. The syndrome is more commonly found in Hispanics, where one in 18,00 individuals in Northwestern Puerto Rico are impacted. Because of the rarity of this chronic condition, patients often face challenges in their ability to cope with the diagnosis. A phenomen...