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Crohn's‐like colitis, enterocolitis and perianal disease in Hermansky–Pudlak syndrome
Author(s) -
Hazzan D.,
Seward S.,
Stock H.,
Zisman S.,
Gabriel K.,
Harpaz N.,
Bauer J. J.
Publication year - 2006
Publication title -
colorectal disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.029
H-Index - 89
eISSN - 1463-1318
pISSN - 1462-8910
DOI - 10.1111/j.1463-1318.2006.01046.x
Subject(s) - medicine , hermansky–pudlak syndrome , oculocutaneous albinism , enterocolitis , pathogenesis , inflammatory bowel disease , lipofuscin , disease , colitis , gastrointestinal disorder , pathology , chronic granulomatous disease , albinism , dermatology , gastroenterology , immunology , paleontology , pulmonary fibrosis , biology , fibrosis
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.