Juvenile Idiopathic Arthritis Associated with Combined JP-HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in SMAD4

被引：5
作者：
Bishop, Juliet Chhay [1 ]
Britton, Jacquelyn Francis [1 ]
Murphy, Anne M. [2 ]
Sule, Sangeeta [3 ]
Mitchell, Sally [4 ]
Takemoto, Clifford [5 ]
Collaco, Joseph M. [6 ]
Karnsakul, Wikrom [7 ]
Cuffari, Carmelo [7 ]
Dietz, Edith [8 ]
Bodurtha, Joann [1 ]
机构：
[1] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Dept Med Genet, 600 North Wolfe St,Phipps 228, Baltimore, MD 21287 USA
[2] Johns Hopkins Univ, Sch Med, Dept Pediat, Div Cardiol, Baltimore, MD 21287 USA
[3] Johns Hopkins Univ, Sch Med, Dept Pediat Nephrol, Baltimore, MD 21287 USA
[4] Johns Hopkins Univ, Sch Med, Dept Intervent Radiol, Baltimore, MD 21287 USA
[5] Johns Hopkins Univ, Sch Med, Dept Pediat Hematol, Baltimore, MD 21287 USA
[6] Johns Hopkins Univ, Sch Med, Dept Pediat Pulmonol, Baltimore, MD 21287 USA
[7] Johns Hopkins Univ, Sch Med, Dept Pediat Gastroenterol, Baltimore, MD 21287 USA
[8] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21287 USA
来源：
JOURNAL OF PEDIATRIC GENETICS | 2018年 / 7卷 / 02期
关键词：
SMAD4; juvenile polyposis syndrome; hereditary hemorrhagic telangiectasia; juvenile idiopathic arthritis; TGF-beta;
D O I：
10.1055/s-0037-1609060
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
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 heterozygousmutations in the SMAD4 gene. Systemic juvenile idiopathic arthritis (JIA) is a severe, chronic diseasemarked by arthritis and systemic inflammation for which the cause remains unknown. JIA has never been described in association with SMAD4-related disease. We describe a case of JP-HHT syndrome with a novel SMAD4 variant, c.1052A > T (p.D351V), in which the child also had JIA manifestation.
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收藏
页码：78 / 82
页数：5
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