Abstract

RANGEL RIVERA, Diego Alejandro; MENDOZA ROJAS, Víctor Clemente; URIBE PEREZ, Claudia Janeth  and  CONTRERAS-GARCIA, Gustavo Adolfo. Hyaline fibromatosis syndrome: case report of two siblings. Arch. argent. pediatr. [online]. 2015, vol.113, n.5, pp.e264-e267. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2015.e264.

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.

Keywords : Hyaline fibromatosis syndrome; Joint contracture; Gingival hypertrophy.

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