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Infantile Systemic Hyalinosis: A Case Report and Literature Review
Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterozygous group of genetic fibromatosis. There is a diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle, lymph node, spleen, thyroid, and adrenal gland due to which it presents clinically w...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10625310/ https://www.ncbi.nlm.nih.gov/pubmed/37927741 http://dx.doi.org/10.7759/cureus.46519 |
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author | Mohammed, Samah E Mohammed, Mohaned M Saeed, Muhammad AL Zahrani, Daifulah Alasmari, Badriah G |
author_facet | Mohammed, Samah E Mohammed, Mohaned M Saeed, Muhammad AL Zahrani, Daifulah Alasmari, Badriah G |
author_sort | Mohammed, Samah E |
collection | PubMed |
description | Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterozygous group of genetic fibromatosis. There is a diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle, lymph node, spleen, thyroid, and adrenal gland due to which it presents clinically with multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, and diarrhea with protein-losing enteropathy, and is associated with recurrent infections. The disease is caused by mutations in ANTXR2 also known as the CMG2 gene, which encodes the transmembrane-extracellular matrix assembly. In this report, we describe a nine-month-old male diagnosed with ISH based on the clinical presentation of severe skin lesions, painful joint contractures, diarrhea, and failure to thrive. His diagnosis was confirmed by molecular DNA sequencing of the ANTXR2 gene. Consanguinity and molecular diagnosis will be helpful for early diagnosis and accurate management. |
format | Online Article Text |
id | pubmed-10625310 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-106253102023-11-05 Infantile Systemic Hyalinosis: A Case Report and Literature Review Mohammed, Samah E Mohammed, Mohaned M Saeed, Muhammad AL Zahrani, Daifulah Alasmari, Badriah G Cureus Pediatrics Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterozygous group of genetic fibromatosis. There is a diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle, lymph node, spleen, thyroid, and adrenal gland due to which it presents clinically with multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, and diarrhea with protein-losing enteropathy, and is associated with recurrent infections. The disease is caused by mutations in ANTXR2 also known as the CMG2 gene, which encodes the transmembrane-extracellular matrix assembly. In this report, we describe a nine-month-old male diagnosed with ISH based on the clinical presentation of severe skin lesions, painful joint contractures, diarrhea, and failure to thrive. His diagnosis was confirmed by molecular DNA sequencing of the ANTXR2 gene. Consanguinity and molecular diagnosis will be helpful for early diagnosis and accurate management. Cureus 2023-10-05 /pmc/articles/PMC10625310/ /pubmed/37927741 http://dx.doi.org/10.7759/cureus.46519 Text en Copyright © 2023, Mohammed et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Pediatrics Mohammed, Samah E Mohammed, Mohaned M Saeed, Muhammad AL Zahrani, Daifulah Alasmari, Badriah G Infantile Systemic Hyalinosis: A Case Report and Literature Review |
title | Infantile Systemic Hyalinosis: A Case Report and Literature Review |
title_full | Infantile Systemic Hyalinosis: A Case Report and Literature Review |
title_fullStr | Infantile Systemic Hyalinosis: A Case Report and Literature Review |
title_full_unstemmed | Infantile Systemic Hyalinosis: A Case Report and Literature Review |
title_short | Infantile Systemic Hyalinosis: A Case Report and Literature Review |
title_sort | infantile systemic hyalinosis: a case report and literature review |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10625310/ https://www.ncbi.nlm.nih.gov/pubmed/37927741 http://dx.doi.org/10.7759/cureus.46519 |
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