| Literature DB >> 29707409 |
Juliet Chhay Bishop1, Jacquelyn Francis Britton1, Anne M Murphy2, Sangeeta Sule3, Sally Mitchell4, Clifford Takemoto5, Joseph M Collaco6, Wikrom Karnsakul7, Carmelo Cuffari7, Edith Dietz8, Joann Bodurtha1.
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.Entities:
Keywords: SMAD4; TGF-β; hereditary hemorrhagic telangiectasia; juvenile idiopathic arthritis; juvenile polyposis syndrome
Year: 2017 PMID： 29707409 PMCID： PMC5916806 DOI： 10.1055/s-0037-1609060
Source DB: PubMed Journal: J Pediatr Genet ISSN： 2146-460X