Open AccessSíndrome de fibromatosis hialina: reporte de dos casos de una misma familia
Author(s) -
Diego Alejandro Rangel Rivera,
Víctor Clemente Mendoza-Rojas,
Cristhian Pérez,
Gustavo Adolfo Contreras-García
Publication year - 2015
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2015.e264
Subject(s) - hyaline , fibromatosis , medicine , systemic disease , pathology , disease , dermatology
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.