Sanampudi Sreeja, Vajramani Aashna, Batra Kiran
Radiology, University of Texas (UT) Southwestern Medical Center, Dallas, USA.
Radiology, Texas Agricultural and Mechanical (A&M) University, College Station, USA.
Cureus. 2024 Jul 21;16(7):e65035. doi: 10.7759/cureus.65035. eCollection 2024 Jul.
Hermansky-Pudlak syndrome (HPS) is a genetic multisystemic disorder with oculocutaneous albinism, granulomatous colitis, bleeding diathesis, and pulmonary fibrosis. Multiple subtypes of HPS exist, with certain types having higher predilection for pulmonary fibrosis. This case report focuses on the demonstration of pulmonary imaging findings seen in a patient. Several imaging features overlap with idiopathic pulmonary fibrosis including traction bronchiectasis, pleural and peribronchovascular thickening, and reticulations. This case report highlights the differences seen in lung disease associated with HPS compared to other interstitial lung diseases, in addition to the multi-systemic features of HPS.
赫尔曼斯基-普德拉克综合征（HPS）是一种遗传性多系统疾病，伴有眼皮肤白化病、肉芽肿性结肠炎、出血倾向和肺纤维化。HPS有多种亚型，某些类型对肺纤维化的易感性更高。本病例报告重点展示了一名患者的肺部影像学表现。一些影像学特征与特发性肺纤维化重叠，包括牵拉性支气管扩张、胸膜和支气管血管周围增厚以及网状影。本病例报告强调了与其他间质性肺疾病相比，HPS相关肺部疾病的差异，以及HPS的多系统特征。
