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J R Soc Med. 1995 May; 88(5): 293P–294P.
PMCID: PMC1295210

Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome.

Abstract

Cases of Hermansky-Pudlak syndrome may present to the dermatologist, ophthalmologist or haematologist. Classically the diagnosis rests on the triad of oculocutaneous albinism, a bruising tendency and the presence of characteristic pigmented-containing cells in the bone marrow. Specific tests of platelet function can, however, suggest the diagnosis without recourse to invasive techniques. We describe the disease in two young sisters.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • HERMANSKY F, PUDLAK P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. 1959 Feb;14(2):162–169. [PubMed]
  • White JG, Edson JR, Desnick SJ, Witkop CJ., Jr Studies of platelets in a variant of the Hermansky-Pudlak syndrome. Am J Pathol. 1971 May;63(2):319–332. [PubMed]
  • Weiss HJ, Chervenick PA, Zalusky R, Factor A. A familialdefect in platelet function associated with imapired release of adenosine diphosphate. N Engl J Med. 1969 Dec 4;281(23):1264–1270. [PubMed]
  • Hardisty RM, Mills DC, Ketsa-Ard K. The platelet defect associated with albumism. Br J Haematol. 1972 Dec;23(6):679–692. [PubMed]
  • Gerrard JM, Lint D, Sims PJ, Wiedmer T, Fugate RD, McMillan E, Robertson C, Israels SJ. Identification of a platelet dense granule membrane protein that is deficient in a patient with the Hermansky-Pudlak syndrome. Blood. 1991 Jan 1;77(1):101–112. [PubMed]

Articles from Journal of the Royal Society of Medicine are provided here courtesy of Royal Society of Medicine Press