What are the symptoms of Hermansky-Pudlak syndrome?

What are the symptoms of Hermansky-Pudlak syndrome?

The classic symptoms of Hermansky-Pudlak syndrome include the lack of color (pigmentation) in the skin, hair, and eyes (oculocutaneous albinism), and dysfunction of blood platelets leading to prolonged bleeding (storage pool-deficient platelets).

What is hermansky-pudlak?

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding diathesis, and other organ involvement specific to certain types [1-3]. Eleven types of HPS associated with mutations in 11 different genes have been recognized (table 1).

How do you test for Hermansky-Pudlak syndrome?

The most accurate test for the diagnosis of HPS is platelet electron microscopy. Platelets of individuals with the syndrome show virtual absence of DB.

What is Herman disease?

Collapse Section. Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes.

Do albinos bruise easily?

Contact your doctor if your child with albinism experiences frequent nosebleeds, easy bruising or chronic infections. These signs and symptoms may indicate the presence of Hermansky-Pudlak syndrome or Chediak-Higashi syndrome, which are rare but serious disorders that include albinism.

What is Chediak-Higashi Syndrome?

Chediak-Higashi syndrome (CHS; MIM #214500) is a rare, autosomal-recessive disorder characterized by recurrent bacterial infections including pyogenic infections, oculocutaneous albinism that is present to a variable extent, progressive neurologic abnormalities, mild coagulation defects, and a high risk of developing …

What is ocular albinism?

Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina , which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.