|
Disclaimer:
Whonamedit.com does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
|
A recommendation:
Hypography is an open community about science and all things related
|
|
|
Hermansky-Pudlak syndrome
Also known as:
Hermansky's syndrome
Associated persons:
Frantisek Hermansky
P. Pudlak
Description:
A hereditary platelet storage pool defect resulting in a prolonged bleeding time, associated with tyrosinase positive albinism and accumulation of a ceroid-like material in the lungs, oral mucose, intestinal mucosa and reticulo-endothelial system. The bleeding tendency is most pronounced after the use of aspirin. Pigment disorder with variable phenotypic expression of degrees of pigmentation affecting skin, hair, and eyes. Other features are nystagmus and photophobia. The affected patients have scant white hair, white-pink skin, translucent irides, minimally pigmented ocular fundi, and nystagmus; those exposed to sunlight have reddish brown hair, pigmented nevi, and freckles. Prevalent in Puerto Ricans, but also in other ethnic groups. Both sexes affected; onset from birth. Inheritance is autosomal recessive.
Hermansky and Pudlak described tewo unrelated albinos with a lifelong bleeding tendency and peculiar pigmented (reticuloendothelial) cells in the bone marrow. One patient was male and the other female, both 33 years old.
Bibliography:
- F. Hermansky, P. Pudlak:
Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies.
Blood, New York, 1959, 14: 162-169.
|
|
|
