A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity

Infantile systemic hyalinosis (ISH) is a rare, autosomal recessive disorder characterized by widespread abnormal growth of hyalinized fibrous tissue in skin and mucosae. The typical clinical picture consists of the development of joint contractures, skin lesions, and severe, chronic pain. We report...

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Detalles Bibliográficos
Autores principales: Baroud, Sumer, Alawadhi, Ameen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Dermatology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8365122/
https://www.ncbi.nlm.nih.gov/pubmed/34414050
http://dx.doi.org/10.7759/cureus.16433
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author Baroud, Sumer
Alawadhi, Ameen
author_facet Baroud, Sumer
Alawadhi, Ameen
author_sort Baroud, Sumer
collection PubMed
description Infantile systemic hyalinosis (ISH) is a rare, autosomal recessive disorder characterized by widespread abnormal growth of hyalinized fibrous tissue in skin and mucosae. The typical clinical picture consists of the development of joint contractures, skin lesions, and severe, chronic pain. We report the case of a 2-year-old Pakistani girl, who presented to our clinic with papulonodular lesions, gingival hyperplasia, hypotonia, and joint contractures. Skin biopsy revealed hyaline deposits, and genetic testing revealed a mutation in the protein Anthrax toxin receptor 2 (ANTXR2).
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spelling pubmed-83651222021-08-18 A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity Baroud, Sumer Alawadhi, Ameen Cureus Dermatology Infantile systemic hyalinosis (ISH) is a rare, autosomal recessive disorder characterized by widespread abnormal growth of hyalinized fibrous tissue in skin and mucosae. The typical clinical picture consists of the development of joint contractures, skin lesions, and severe, chronic pain. We report the case of a 2-year-old Pakistani girl, who presented to our clinic with papulonodular lesions, gingival hyperplasia, hypotonia, and joint contractures. Skin biopsy revealed hyaline deposits, and genetic testing revealed a mutation in the protein Anthrax toxin receptor 2 (ANTXR2). Cureus 2021-07-16 /pmc/articles/PMC8365122/ /pubmed/34414050 http://dx.doi.org/10.7759/cureus.16433 Text en Copyright © 2021, Baroud 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 Dermatology
Baroud, Sumer
Alawadhi, Ameen
A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity
title A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity
title_full A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity
title_fullStr A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity
title_full_unstemmed A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity
title_short A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity
title_sort severe case of infantile systemic hyalinosis in an asian child: a product of consanguinity
topic Dermatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8365122/
https://www.ncbi.nlm.nih.gov/pubmed/34414050
http://dx.doi.org/10.7759/cureus.16433
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