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

Overview

Journal Cureus

Specialty Biomedical Engineering

Date 2021 Aug 20

PMID 34414050

Citations 4

Authors

Sumer Baroud

Ameen Alawadhi

Affiliations

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Abstract

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).

Citing Articles

Effect of Paediatric Rehabilitation in Infantile Systemic Hyalinosis: A Case Report.

Seth N, Sharath H, Raghuveer R, Qureshi M Cureus. 2024; 16(6):e61866.

PMID: 38978933 PMC: 11228418. DOI: 10.7759/cureus.61866.

Beyond Skin Deep: A Case Report of Infantile Systemic Hyalinosis in a Six-Month-Old Infant.

Vagha J, Wazurkar A, Madke B, Lohiya S, Wandile S, Vagha K Cureus. 2024; 16(5):e59510.

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Zimmermann-Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: a case report.

Owlia F, Navabazam A, Akhavan-Karbasi M, Derakhshan Barjoei M BMC Pediatr. 2023; 23(1):506.

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Segal S, Khanna A Cureus. 2023; 15(3):e35946.

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