Differences
This shows you the differences between two versions of the page.
| Both sides previous revision Previous revision Next revision | Previous revision | ||
| hermansky_pudlak_syndrome [2015/06/29 03:18] – admin | hermansky_pudlak_syndrome [2025/04/18 20:40] (current) – external edit 127.0.0.1 | ||
|---|---|---|---|
| Line 1: | Line 1: | ||
| + | ====== Hermansky-Pudlack Syndrome ====== | ||
| + | ====Main Features==== | ||
| + | * Lethal subtype of Oculocutaneous albinism | ||
| + | * Tyrosinase-positive oculocutaneous albinism | ||
| + | * Skin can be from white to olive | ||
| + | * Hair color can be from white to brown | ||
| + | * **Bleeding diathesis** from platelet storage pool deficiency | ||
| + | * **Pulmonary Fibrosis** | ||
| + | * **Granulomatous colitis** | ||
| + | ====Eye Findings==== | ||
| + | * Iris pigment abnormalities with iris transillumination | ||
| + | * Reduced retinal pigment | ||
| + | * Foveal hypoplasia | ||
| + | * VA usually between 20/50 to 20/400 | ||
| + | * Nystagmus | ||
| + | * Abnormal increase in crossing of optic nerve fibers at the optic chiasm | ||
| + | ====Diagnosis==== | ||
| + | * Clinical findings above | ||
| + | * Platelet electron microscopy shows absent dense bodies | ||
| + | * Most often used to confirm diagnosis | ||
| + | * Increased bleeding time | ||
| + | * Impaired platelet aggregation | ||
| + | * Urinary ceroid lipofuscin deposits is characteristic but virtually never used for diagnosis | ||
| + | * Molecular diagnosis available, | ||
| + | * Testing for HPS 1-8 available clinically | ||
| + | * HPS 9 (BLOC1S6, PLDN) is available on a research basis only | ||
| + | ====Management==== | ||
| + | * Correct Refractive Error | ||
| + | * Protect skin from the sun | ||
| + | * Protracted bleeding with surgery- appropriate treatment needed | ||
| + | * gelfoam, DDAVP, platelet transfusions | ||
| + | * Supplemental Oxygen | ||
| + | * Lung Transplant | ||
| + | * Anti-inflammatory or immunosuppressive agents for colitis | ||
| + | ====Reference==== | ||
| + | [[http:// | ||
| + | |||
| + | {{tag> | ||