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Hermansky-Pudlak Syndrome is a rare kind of autosomal recessive disorder that causes oculocutaneous albinism or the condition of decreased pigmentation in the body. It eventually leads to bleeding and causes abnormalities of the platelet. There is also storage of abnormal fat protein compounds in the body. Common symptoms include bleeding, vision issues and also cellular storage disorders.
HOW IS HERMANSKY-PUDLAK SYNDROME DIAGNOSED?
The diagnosis of HPS is established by clinical findings of hypopigmentation of the skin and hair, characteristic eye findings. Diagnosis can be difficult because platelets are malformed, but normal in number. Electron microscopes provide a reliable source for screening.
HOW IS HERMANSKY-PUDLAK SYNDROME TREATED?
There is actually no apt or full-fledged treatment available for this problem. Paediatric experts usually suggest a mix of vitamin E and the antidiuretic dDAVP to control and ease the problem. Alongside other medications are given to limit or restrict the disease to an extent.
DID YOU KNOW?
People with Hermansky-Pudlak Syndrome should always consult a specialist to treat this disease.