Hermansky-Pudlak综合征中肉芽肿性结肠炎的转移性皮肤受累
Metastatic cutaneous involvement of granulomatous colitis in Hermansky-Pudlak syndrome.
作者信息
Weitz Nicole, Patel Vishal, Tlougan Brook, Mencin Ali, Kadenhe-Chiweshe Angela, Morel Kimberly D, Lauren Christine
机构信息
School of Medicine, College of Physicians and Surgeons, Columbia University, New YorkDepartment of Dermatology, Columbia University, New YorkDepartment of Pediatrics, Columbia University, New YorkDepartment of Surgery, Columbia University, New York, New York.
出版信息
Pediatr Dermatol. 2013 Nov-Dec;30(6):e278-80. doi: 10.1111/j.1525-1470.2012.01728.x. Epub 2012 Apr 4.
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.
赫尔曼斯基-普德拉克综合征（HPS）是一种罕见的常染色体隐性疾病，其特征为眼皮肤白化病、血小板功能障碍导致的出血素质以及溶酶体类蜡质蓄积，后者可引起克罗恩病样肉芽肿性结肠炎和肺纤维化。我们报告了HPS中肉芽肿性结肠炎的造口周围和外阴皮肤受累情况。
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