Bishop Juliet Chhay, Britton Jacquelyn Francis, Murphy Anne M, Sule Sangeeta, Mitchell Sally, Takemoto Clifford, Collaco Joseph M, Karnsakul Wikrom, Cuffari Carmelo, Dietz Edith, Bodurtha Joann
Department of Medical Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States.
Division of Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States.
J Pediatr Genet. 2018 Jun;7(2):78-82. doi: 10.1055/s-0037-1609060. Epub 2017 Dec 29.
Juvenile polyposis (JP) syndrome is characterized by multiple hamartomatous polyps of the gastrointestinal tract. Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectasia in the skin, mucous membranes, and arteriovenous malformations in other organs. Individuals with JP-HHT syndrome have variable features of both rare disorders, attributed to heterozygous mutations in the gene. Systemic juvenile idiopathic arthritis (JIA) is a severe, chronic disease marked by arthritis and systemic inflammation for which the cause remains unknown. JIA has never been described in association with -related disease. We describe a case of JP-HHT syndrome with a novel variant, c.1052A > T (p.D351V), in which the child also had JIA manifestation.
青少年息肉病（JP）综合征的特征是胃肠道出现多个错构瘤性息肉。遗传性出血性毛细血管扩张症（HHT）是一种血管发育异常疾病，其特征为皮肤、黏膜出现毛细血管扩张，以及其他器官出现动静脉畸形。患有JP-HHT综合征的个体具有这两种罕见疾病的不同特征，这归因于该基因的杂合突变。系统性幼年特发性关节炎（JIA）是一种严重的慢性疾病，以关节炎和全身炎症为特征，病因尚不清楚。JIA从未被描述为与相关疾病有关。我们描述了一例患有新型变异c.1052A > T（p.D351V）的JP-HHT综合征病例，该患儿同时还出现了JIA表现。
