Infantile systemic hyalinosis with lesions of the gastrointestinal tract manifested by malabsorption syndrome-Reference-Cited by-同舟云学术

Infantile systemic hyalinosis with lesions of the gastrointestinal tract manifested by malabsorption syndrome

Published:2023-12-18 Issue:12 Volume: Page:183-188
ISSN:1682-8658
Container-title:Experimental and Clinical Gastroenterology
language:
Short-container-title:ECG

Author:

Tertychnyy A. S.¹^ORCID,Alieva E. I.²,Pachuashvili N. V.¹^ORCID,Goryacheva O. A.³^ORCID,Tsvetkov P. M.³^ORCID,Kvirkvelia M. A.³^ORCID,Marenich N. S.³^ORCID

Affiliation:

1. I. M. Sechenov First Moscow State Medical University (Sechenov University)

2. Federal Scientific and Clinical Center for Children and Adolescents of the Federal Medical and Biological Agency of Russia

3. Morozovskaya City Children’s Clinical Hospital, Moscow Health Department

Abstract

Infantile systemic hyalinosis (ISH) is a rare genetic disease, which is associated with ANTXR2 gene defect. The disease is characterized by progressive deposition of amorphous hyaline masses in various organs and tissues. The main distinguishing features of ISH include thickening of the skin, erythema or hyperpigmentation of bone prominences, damage to internal organs, persistent diarrhea, frequent severe infections and developmental delay. This article presents a case of ISH diagnosis in a patient aged 2 years, the key feature of which is the establishment of a diagnosis based on the evaluation of the results of endoscopic and morphological studies. The purpose of our work is to increase awareness and alertness of doctors of different specialties in such a rare disease.

Publisher

LLC Global Media Technology

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