Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and … Zobacz więcej There are three main disorders caused by Hermansky–Pudlak syndrome, which result in these symptoms: • Albinism and eye problems: Individuals will have varying amounts of skin pigment (melanin). … Zobacz więcej HPS can be caused by mutations in several genes: HPS1, HPS3, HPS4, HPS5, HPS6 and HPS7. HPS type 2, … Zobacz więcej The diagnosis of HPS is established by clinical findings of hypopigmentation of the skin and hair, characteristic eye findings, and demonstration of absent dense bodies on whole mount electron microscopy of platelets. Molecular genetic testing of the HPS1 gene is … Zobacz więcej The course of HPS has been mild in rare instances of the disorder, however, the general prognosis is still considered to be poor. The disease can cause dysfunctions of the lungs, intestine, kidneys, and heart. The major complication of most forms of the disorder is Zobacz więcej The mechanism of Hermansky–Pudlak syndrome indicates that platelets in affected individuals accumulate abnormally with thrombin Zobacz więcej While there is no cure for HPS, treatment for chronic hemorrhages associated with the disorder includes therapy with vitamin E and the antidiuretic dDAVP. Considerations for patients A preoperative pulmonology consultation is needed. The … Zobacz więcej HPS is one of the rare lung diseases currently being studied by The Rare Lung Diseases Consortium (RLDC). The RLDC is part of the … Zobacz więcej
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Hermansky-Pudlak syndrome DermNet
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