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

Juliet Chhay Bishop; Jacquelyn Francis Britton; Anne M. Murphy; Sangeeta Sule; Sally Mitchell; Clifford Takemoto; Joseph M. Collaco; Wikrom Karnsakul; Carmelo Cuffari; Edith Dietz; Joann Bodurtha

doi:10.1055/s-0037-1609060

Journal of Pediatric Genetics, Table of Contents

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

Authors

Juliet Chhay Bishop

¹Department of Medical Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
Jacquelyn Francis Britton

¹Department of Medical Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
Anne M. Murphy

²Division of Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
Sangeeta Sule

³Department of Pediatric Nephrology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
Sally Mitchell

⁴Department of Interventional Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
Clifford Takemoto

⁵Department of Pediatric Hematology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
Joseph M. Collaco

⁶Department of Pediatric Pulmonology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
Wikrom Karnsakul

⁷Department of Pediatric Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
Carmelo Cuffari

⁷Department of Pediatric Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
Edith Dietz

⁸Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
Joann Bodurtha

¹Department of Medical Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States

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

Full Text

References

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