A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity.
fibromatosis
hyaline fibromatosis syndrome
infantile systemic hyalinosis
joint contractures
juvenile hyalinosis
skin lesions
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
accepted:
16
07
2021
entrez:
20
8
2021
pubmed:
21
8
2021
medline:
21
8
2021
Statut:
epublish
Résumé
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).
Identifiants
pubmed: 34414050
doi: 10.7759/cureus.16433
pmc: PMC8365122
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e16433Informations de copyright
Copyright © 2021, Baroud et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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