Albinism Research Today is a free monthly online journal that collates and summarizes the latest research about Albinism, including details on pigmentation, genetic trait, heritability.

Crohn's-like colitis, enterocolitis and perianal disease in Hermansky-Pudlak syndrome.

Hazzan D, Seward S, Stock H, Zisman S, Gabriel K, Harpaz N, Bauer JJ

Department of Surgery, Mount Sinai Hospital, New York, NY 10029, USA. hazzand@hotmail.co.il

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessively inherited disorder consisting of the triad of oculocutaneous tyrosinase-positive albinism, prolonged bleeding time secondary to platelet storage pool defect and ceroid depositions within the reticuloendothelial system. Some patients also reportedly have gastrointestinal (GI) complications related to chronic granulomatous colitis, enterocolitis and extensive granulomatous perianal disease, the later previously unreported in the literature. These observations suggest that the GI complications of HPS are due to the development of classical Crohn's disease. The implications for disease pathogenesis and surgical management are discussed.

Published 21 August 2006 in Colorectal Dis, 8(7): 539-43.
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