Hermansky-Pudlak syndrome

(redirected from Hermanski-pudlak syndrome)

Her·man·sky-Pud·lak syn·drome

(hār-mon'skē pūd'lok), [MIM*203300]
a form of oculocutaneous albinism (autosomal recessive) with accumulation of ceroid in lysosomes with restrictive lung disease, granulomatous colitis, kidney failure, cardiomyopathy, and storage pool-deficient platelets.
See also: oculocutaneous albinism.
[F. Hermansky, P. Pudlak]

Hermansky-Pudlak syndrome

[hərmän′skē poo͡d′läk]
Etymology: F. Hermansky, Czechoslovakian internist, 20th century; P. Pudlak, Czechoslovakian internist, 20th century
an autosomal-recessive form of oculocutaneous albinism, with a hemorrhagic diathesis secondary to a platelet defect and accumulation of a ceroid-like substance in the reticuloendothelial system, oral mucosa, and urine.

Hermansky-Pudlak Syndrome (HPS)

A rare type of albinism characterized by a problem with blood clotting and a buildup of waxy material in lungs and intestines.
Mentioned in: Albinism

Hermansky,

F., Czech physician.
Hermansky-Pudlak syndrome - autosomanl recessive trait characterized by early fibromatosis and related abnormalities.

Pudlak,

P., 20th century Czech physician.
Hermansky-Pudlak syndrome - see under Hermansky