Síndrome de fibromatosis hialina: reporte de dos casos de una misma familia

Translated title of the contribution: Hyaline fibromatosis syndrome: Case report of two siblings

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

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

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 that for years were considered separately. However, it has been documented that the cause of both entities is located in the same gene and the clinical features and age of presentation are overlapped. In this study two cases of sisters from a same colombian family affected by the disease are presented.

Translated title of the contributionHyaline fibromatosis syndrome: Case report of two siblings
Original languageSpanish
Pages (from-to)e264-e267
JournalArchivos Argentinos de Pediatria
Volume113
Issue number5
DOIs
StatePublished - 1 Jan 2015

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