Loredana Asztalos Manuela, Schafernak Kristian T, Gray Jayla, Berry Adam, Paller Amy S, Mancini Anthony J
Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Department of Pediatrics, Pathology and Laboratory Medicine , Northwestern University, Chicago, IL, USA.
Pediatr Dermatol. 2017 Nov;34(6):638-646. doi: 10.1111/pde.13266. Epub 2017 Oct 16.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by mutations in one of nine genes involved in the packaging and formation of specialized lysosomes, including melanosomes and platelet-dense granules. The cardinal features are pigmentary dilution, bleeding diathesis, and accumulation of ceroid-like material in reticuloendothelial cells. Pulmonary fibrosis induced by tissue damage is seen in the most severe forms, and one subtype is characterized by immunodeficiency. We describe two patients with HPS type 1 and review the updated gene-based classification, clinical features, and recommendations for evaluation and follow-up.
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，由参与特殊溶酶体（包括黑素小体和血小板致密颗粒）包装和形成的九个基因之一发生突变引起。主要特征为色素稀释、出血倾向以及类蜡样物质在网状内皮细胞中的蓄积。在最严重的形式中可见组织损伤诱导的肺纤维化，其中一个亚型以免疫缺陷为特征。我们描述了两名1型HPS患者，并综述了基于基因的最新分类、临床特征以及评估和随访建议。
