Infantile systemic hyalinosis with lesions of the gastrointestinal tract manifested by malabsorption syndrome
A. S. Tertychnyy,
E. I. Alieva,
N. V. Pachuashvili,
O. A. Goryacheva,
P. M. Tsvetkov,
M. A. Kvirkvelia,
N. S. Marenich https://doi.org/10.31146/1682-8658-ecg-220-12-183-188
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.
About the Authors
A. S. Tertychnyy
I. M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
E. I. Alieva
Federal Scientific and Clinical Center for Children and Adolescents of the Federal Medical and Biological Agency of Russia
Russian Federation
Russian Federation
N. V. Pachuashvili
I. M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
O. A. Goryacheva
Morozovskaya City Children’s Clinical Hospital, Moscow Health Department
Russian Federation
Russian Federation
P. M. Tsvetkov
Morozovskaya City Children’s Clinical Hospital, Moscow Health Department
Russian Federation
Russian Federation
M. A. Kvirkvelia
Morozovskaya City Children’s Clinical Hospital, Moscow Health Department
Russian Federation
Russian Federation
N. S. Marenich
Morozovskaya City Children’s Clinical Hospital, Moscow Health Department
Russian Federation
Russian Federation
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Review
For citations:
Tertychnyy A.S., Alieva E.I., Pachuashvili N.V., Goryacheva O.A., Tsvetkov P.M., Kvirkvelia M.A., Marenich N.S. Infantile systemic hyalinosis with lesions of the gastrointestinal tract manifested by malabsorption syndrome. Experimental and Clinical Gastroenterology. 2023;(12):183-188. (In Russ.) https://doi.org/10.31146/1682-8658-ecg-220-12-183-188
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