Hermansky-Pudlak Syndrome is a rare disorder found in children. The condition is indicated in albinism, which is a form of skin pigmentation and dysfunction of the blood platelets. In many cases visual impairment is also witnessed. The symptom of albinism can present itself in different forms in different people affected by the syndrome.
HOW IS HERMANSKY-PUDLAK SYNDROME DIAGNOSED?
Diagnosis of Hermansky-Pudlak Syndrome depends on the symptoms and a complete physical examination of the patient. Paediatrician may look for specific eye conditions and hypopigmentation of skin and hair. Molecular testing may confirm diagnosis.
HOW IS HERMANSKY-PUDLAK SYNDROME TREATED?
A doctor, usually a Pediatric, is consulted to treat cases of Hermansky-Pudlak Syndrome and after a thorough check-up of the body, he/she starts the medical treatment.
DID YOU KNOW?
People with Hermansky-Pudlak Syndrome should always consult a specialist to treat this disease.