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Article

[Hyaline fibromatosis syndrome: case report of two siblings].

Archivos argentinos de pediatria - 1 Oct 2015

Rangel Rivera Diego Alejandro, Mendoza Rojas Víctor Clemente, Uribe Pérez Claudia Janeth, Contreras-García Gustavo Adolfo

Abstract excerpt

Hyaline fibromatosis syndrome is a rare autosomal recessive disease characterized by the presence of contracture and joint pain, hyperpigmented plaques and nodules and gingival hypertrophy. These findings are the result of the accumulation of a hyaline amorphous material similar to collagen type VI in different tissues. This syndrome includes systemic hyalinosis and juvenile hyaline fibromatosis, two entities...

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Identifiers

PMID: 26294158
DOI: 10.5546/aap.2015.e264

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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