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Hermansky-Pudlak syndrome

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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-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.


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INTRODUCTION Hermansky-Pudlak syndrome (HPS) was first described in 1959 by Drs.
Two Successful Vaginal Births after Cesarean Section in a Patient ... by Ronald D Beesley and Randal D Robinson and Theresa L Stewart / Military Medicine
org 1,2,3,5,6,8 HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC See: Alagille Syndrome HEPATOPHOSPHORYLASE DEFICIENCY GLYCOGENOSIS See: Glycogen Storage Diseases; Muscular Dystrophy HEREDITARY KIDNEY DISEASES See: Kidney Diseases, Hereditary HEREDITARY LEPTOCYTOSIS See: Cooley Anemia HEREDITARY NONPOLYPOSIS COLORECTAL CANCER See: Colon Cancer, Hereditary HERMANSKY-PUDLAK SYNDROME See also: Albinism & Hypopigmentation; Visual Impairments Hermansky-Pudlak Syndrome Network Inc.
National resources for specific disabilities by The Exceptional Parent
72) Dense granule SPDs ([delta]-SPDs) can be seen as a singular clinical entity or as part of other hereditary disorders, such as Chediak-Higashi, Hermansky-Pudlak syndrome, thrombocytopenia-absent radius syndrome, or Wiskott-Aldrich syndrome.
The laboratory diagnosis of platelet disorders: an algorithmic ... by Kottke-Marchant, Kandice; Corcoran, George / Archives of Pathology & Laboratory Medicine
 
 
 
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