Hermansky-Pudlak Syndrome & Skin Pigmentation

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Hermansky-Pudlak Syndrome (HPS) is a group of rare genetic diseases. A symptom of these disorders is albinism. Other symptoms of HPS include bleeding.

Albinism associated with HPS

HPS sufferers can produce different amounts of melanin and so their skin therefore has differing amounts of pigmentation. Some people can have very white skin whereas others may have darker skin.  This is also the case with hair colour. Usually though, people with HPS will have blond hair and pale skin.

It is thought that around 8 out of every 10 sufferers of HPS will have either freckles or brown pigmented spots.

Who can get HPS?

HPS is a rare disease which is most common in Puerto Rico. HPS has also been reported to have occurred in Switzerland and Japan, among other countries. Both males and females can be affected. Usually HPS is first seen in children, and it is the albinism which is most obvious sign of the disorder. The other symptoms evolve over time. Pulmonary fibrosis usually develops between the ages of 30-40.

Is this disease dangerous?

The majority of people suffering from HPS will die from complications brought about by it. Most of these deaths are due to the pulmonary fibrosis, with many of the others being caused by bleeding. Sufferers are also more likely to get skin cancer due to having lighter skin which is more sensitive to sun exposure.

Most sufferers of HPS are legally blind. This is due to a number of conditions such as photophobia, strabismus and nystagmus, caused by a lack of pigmentation in the eyes.

What causes HPS?

HPS is a genetic disease which you can inherit from your parents and is most often found in Puerto Rico.

How can HPS be diagnosed?

Genetic testing can be used to diagnose HPS. It is also possible to diagnose HPS by examining the blood. Once HPS has been diagnosed, further tests should be done to examine the how severe the symptoms of albinism, vision defects, bleeding defects and pulmonary fibrosis are.

How HPS is treated?

If you have HPS then the treatment usually involves treating all the symptoms that occur with it. This includes reducing bleeding and trying to repair any visual problems. You should also be monitored for any signs of skin cancer developing. Because of the albinism, if you have HPS then you should avoid sun exposure and wear sunscreen and protective clothing. You should therefore see a number of different specialists to try to reduce the impact of the complications of the disorder.

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