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Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation

Authors Schussler E, Linkner RV, Levitt J, Mehta L, Martignetti JA, Oishi K

Received 6 December 2017

Accepted for publication 4 April 2018

Published 27 June 2018 Volume 2018:8 Pages 17—21


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr William Cho

Edith Schussler,1 Rita V Linkner,2 Jacob Levitt,2 Lakshmi Mehta,3 John A Martignetti,1,3 Kimihiko Oishi1,3

1Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA; 2Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, NY, USA; 3Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA

Abstract: Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder and an allelic form of hyaline fibromatosis syndrome that is caused by mutations in the ANTRX2 gene encoding the transmembrane anthrax toxin receptor 2. Its main features include characteristic skin lesions, joint contractures, persistent diarrhea, and failure to thrive due to accumulation of hyaline material in multiple organs. The resulting severe malnutrition can cause death in early infancy. Because of its rarity and high fatality rate, timely diagnosis is difficult and ISH may be underdiagnosed. In this report, we describe a 10-month-old male with severe protein-losing enteropathy, skin lesions, and painful joint contractures, diagnosed with ISH based on skin histopathology and identification of a novel homozygous ANTRX2 mutation, c.1127_1128delTG (p.V376Gfs*14). While its clinical outcome is poor without curative treatment, establishing a diagnosis of ISH starting from clinical suspicion to molecular analysis is important for appropriate medical management and for risk and carrier assessment of family members.

Keywords: infantile systemic hyalinosis, hyaline fibromatosis syndrome, juvenile hyaline fibromatosis, ANTXR2, enteropathy

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