How rare is Hermansky-Pudlak syndrome?

Hermansky-Pudlak syndrome is a rare disorder in most populations and is estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Type 1 is more common in Puerto Rico, particularly in the northwestern part of the island where about 1 in 1,800 people are affected.

When was Hermansky-Pudlak syndrome discovered?

Hermansky-Pudlak syndrome (HPS) was first documented in 1959 by two Czechoslovakian physicians, who described two albino adults in their fourth decades with severe bleeding and prolonged bleeding time [1]. Worldwide it is extremely rare, but in Puerto Rico it is found in five of every six albinos [2].

Do all albinos have HPS?

All people who have HPS have albinism, but not all people with albinism have HPS. Skin problems—The reduction of pigmentation in the skin from albinism results in an increased chance of developing skin problems, such as skin cancer. Fair skin can be easily damaged by the sun.

Who discovered hermansky pudlak?

HPS was first described in 1959 by Dr. Frantisek Hermansky and Dr. Paulus Pudlak, who identified two patients with oculocutaneous albinism and bleeding diathesis in Czechoslovakia (11). HPS is a non–sex-linked autosomal recessive disorder with no known disease manifestations in carriers.

Is Leucism the same as albinism?

While albinism refers to the complete lack of melanin—the natural pigment that gives skin, feathers, hair, and eyes its color—leucism involves a partial loss of pigmentation.

Is HPS genetic?

HPS is inherited as an autosomal recessive genetic disease. Mutations in one of 10 genes (HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3, PLDN, and AP3D1) are responsible for this disorder.

Is leucism rarer than albinism?

Leucism is also rare in animals, though it’s more common than albinism. 6 The reduction in color still makes them more vulnerable due to their inability to camouflage or to blend in with the rest of their population, but it’s not necessarily a death sentence, depending on severity.