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Case Reports
. 2013 Nov-Dec;30(6):e278-80.
doi: 10.1111/j.1525-1470.2012.01728.x. Epub 2012 Apr 4.

Metastatic cutaneous involvement of granulomatous colitis in Hermansky-Pudlak syndrome

Nicole Weitz  1 , Vishal Patel, Brook Tlougan, Ali Mencin, Angela Kadenhe-Chiweshe, Kimberly D Morel, Christine Lauren
Affiliations
Case Reports

Metastatic cutaneous involvement of granulomatous colitis in Hermansky-Pudlak syndrome

Nicole Weitz et al. Pediatr Dermatol. 2013 Nov-Dec.

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare autosomal-recessive disorder characterized by oculocutaneous albinism, a hemorrhagic diathesis due to platelet dysfunction, and lysosomal ceroid accumulation that can cause a Crohn's-like granulomatous colitis and pulmonary fibrosis. We report peristomal and vulvar cutaneous involvement of the granulomatous colitis in HPS.

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