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Hermansky-Pudlak Syndrome

Hermansky-Pudlak Syndrome: Introduction

Hermansky-Pudlak Syndrome: A rare disorder characterized by various degrees of albinism, bleeding due to a platelet defect and accumulation of a waxy substance in cells (lysosomal ceroid storage). More detailed information about the symptoms, causes, and treatments of Hermansky-Pudlak Syndrome is available below.

Symptoms of Hermansky-Pudlak Syndrome

Home Diagnostic Testing

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Wrongly Diagnosed with Hermansky-Pudlak Syndrome?

Hermansky-Pudlak Syndrome: Related Patient Stories

Hermansky-Pudlak Syndrome: Complications

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Causes of Hermansky-Pudlak Syndrome

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Disease Topics Related To Hermansky-Pudlak Syndrome

Research the causes of these diseases that are similar to, or related to, Hermansky-Pudlak Syndrome:

Hermansky-Pudlak Syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Hermansky-Pudlak Syndrome

Unnecessary hysterectomies due to undiagnosed bleeding disorder in women: The bleeding disorder called Von Willebrand's disease is quite common in women, but often...read more »

Psoriasis often undiagnosed cause of skin symptoms in children: Children who suffer from the skin disorder called psoriasis can often go undiagnosed. The main problem is that psoriasis is rare in...read more »

Rare form of hair loss often misdiagnosed: a rare form of extreme hair loss called "Atrichia with papular lesions" (APL) is often misdiagnosed as alopecia totalis. Researchers estimate that about 1 per 100 diagnoses of alopecia totalis...read more »

Hair and scalp disorders misdiagnosed in African Americans: A higher than average percentage of misdiagnoses of hair or scalp disorders seem to occur in African Americans. Some of the overlooked hair/scalp conditions include ...read more »

Hermansky-Pudlak Syndrome: Research Doctors & Specialists

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Evidence Based Medicine Research for Hermansky-Pudlak Syndrome

Medical research articles related to Hermansky-Pudlak Syndrome include:

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Hermansky-Pudlak Syndrome: Animations

Prognosis for Hermansky-Pudlak Syndrome

Prognosis for Hermansky-Pudlak Syndrome: 70% of patients die due to complications but mild cases can be almost asymptomatic

Research about Hermansky-Pudlak Syndrome

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Statistics for Hermansky-Pudlak Syndrome

Hermansky-Pudlak Syndrome: Broader Related Topics

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Definitions of Hermansky-Pudlak Syndrome:

Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin. - (Source - Diseases Database)

Hermansky-Pudlak Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Hermansky-Pudlak Syndrome, or a subtype of Hermansky-Pudlak Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

 

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