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Metastatic Cutaneous Involvement of Granulomatous Colitis in Hermansky‐Pudlak Syndrome
Author(s) -
Weitz Nicole,
Patel Vishal,
Tlougan Brook,
Mencin Ali,
KadenheChiweshe Angela,
Morel Kimberly D.,
Lauren Christine
Publication year - 2012
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2012.01728.x
Subject(s) - hermansky–pudlak syndrome , medicine , oculocutaneous albinism , colitis , pathology , pulmonary fibrosis , albinism , fibrosis , dermatology , immunology , paleontology , biology
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.