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J R Soc Med 1995;88:293-294
© 1995 Royal Society of Medicine

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Journal of the Royal Society of Medicine, Vol 88, Issue 5 293-294, Copyright © 1995 by Royal Society of Medicine

ORIGINAL ARTICLES

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

JP Ellis, A Gray and F Richards
Princess Margaret Hospital, Swindon, Wilts, UK.

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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