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J Pediatr Genet 2018; 07(02): 078-082
DOI: 10.1055/s-0037-1609060
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Juliet Chhay Bishop
1   Department of Medical Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
,
Jacquelyn Francis Britton
1   Department of Medical Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
,
Anne M. Murphy
2   Division of Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
,
Sangeeta Sule
3   Department of Pediatric Nephrology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
,
Sally Mitchell
4   Department of Interventional Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
,
Clifford Takemoto
5   Department of Pediatric Hematology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
,
Joseph M. Collaco
6   Department of Pediatric Pulmonology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
,
Wikrom Karnsakul
7   Department of Pediatric Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
,
Carmelo Cuffari
7   Department of Pediatric Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
,
Edith Dietz
8   Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
,
Joann Bodurtha
1   Department of Medical Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
› Author Affiliations
Further Information

Publication History

24 August 2017

06 November 2017

Publication Date:
29 December 2017 (online)

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Abstract

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 SMAD4 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 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.

Keywords

SMAD4 - juvenile polyposis syndrome - hereditary hemorrhagic telangiectasia - juvenile idiopathic arthritis - TGF-β
 

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