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| hermansky_pudlak_syndrome [2015/11/10 03:52] – external edit 127.0.0.1 | hermansky_pudlak_syndrome [2025/04/18 20:40] (current) – external edit 127.0.0.1 | ||
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| ====== Hermansky-Pudlack Syndrome ====== | ====== Hermansky-Pudlack Syndrome ====== | ||
| - | =====Main Features===== | + | ====Main Features==== |
| * Lethal subtype of Oculocutaneous albinism | * Lethal subtype of Oculocutaneous albinism | ||
| * Tyrosinase-positive oculocutaneous albinism | * Tyrosinase-positive oculocutaneous albinism | ||
| * Skin can be from white to olive | * Skin can be from white to olive | ||
| * Hair color can be from white to brown | * Hair color can be from white to brown | ||
| - | * Bleeding diathesis from platelet storage pool deficiency | + | |
| - | * Pulmonary Fibrosis | + | |
| - | * Granulomatous colitis | + | |
| - | =====Eye Findings===== | + | ====Eye Findings==== |
| * Iris pigment abnormalities with iris transillumination | * Iris pigment abnormalities with iris transillumination | ||
| * Reduced retinal pigment | * Reduced retinal pigment | ||
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| * Nystagmus | * Nystagmus | ||
| * Abnormal increase in crossing of optic nerve fibers at the optic chiasm | * Abnormal increase in crossing of optic nerve fibers at the optic chiasm | ||
| - | =====Diagnosis===== | + | ====Diagnosis==== |
| * Clinical findings above | * Clinical findings above | ||
| * Platelet electron microscopy shows absent dense bodies | * Platelet electron microscopy shows absent dense bodies | ||
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| * Testing for HPS 1-8 available clinically | * Testing for HPS 1-8 available clinically | ||
| * HPS 9 (BLOC1S6, PLDN) is available on a research basis only | * HPS 9 (BLOC1S6, PLDN) is available on a research basis only | ||
| - | =====Management===== | + | ====Management==== |
| * Correct Refractive Error | * Correct Refractive Error | ||
| * Protect skin from the sun | * Protect skin from the sun | ||
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| * Lung Transplant | * Lung Transplant | ||
| * Anti-inflammatory or immunosuppressive agents for colitis | * Anti-inflammatory or immunosuppressive agents for colitis | ||
| - | =====Reference===== | + | ====Reference==== |
| [[http:// | [[http:// | ||
| - | {{tag> | + | {{tag> |