Pigment, platelets, and Hermansky-Pudlak in human and mouse

Pigment, platelets, and Hermansky-Pudlak in human and mouse.

Although humans show a vast range of skin colors, our relative lack of hair prevents us from showing the full repertoire of pigment variation shared by most mammals (1). Nonetheless, we carry these genes and when their function affects more than pigment synthesis, hypomorphs may cause disease more complex than oculocutaneous albinism. These diseases sometimes have homologies in other species an...

Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models.

Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, bleeding diathesis, and other variable symptoms. The bleeding diathesis has been attributed to δ storage pool deficiency, reflecting the malformation of platelet dense granules. Here, we analyzed agonist-stimulated secretion from other storage granules in platelets from mouse HPS models that lack adaptor protein (AP)-3...

Hermansky-Pudlak syndrome.

We present a rare disease condition Hermansky-Pudlak syndrome in a 33-year-old male. He was born of a consanguineous marriage, had occulo-cutaneous albinism, nystagmus, decreased visual acuity, refractory errors, pulmonary fibrosis and granulomatous inflammation of the colon. In spite of all the classical features of this genetic disorder he was labeled to have disseminated tuberculous infectio...

Hermansky-Pudlak Syndrome

Hermansky-Pudlak syndrome.

A 55-year-old man had oculocutaneous albinism and a history of frequent bruising following minimal trauma. The simultaneous occurrence of these features was first described by Hermansky and Pudlak in 1959. The Hermansky-Pudlak syndrome follows an autosomal recessive trait and is most frequently found in Puerto Rico and in the Swiss alps. It consists of the triad phenotype of hypopigmentation, p...