title: [Hyaline fibromatosis syndrome: case report of two siblings].
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.
authors: Grupo de investigación en Genética Humana, Escuela de Medicina, Universidad Industrial de Santander.
authors: Diego Alejandro
authors: DA
authors: Rangel Rivera
authors: Departamento de Pediatría, Universidad Industrial de Santander.
authors: Víctor Clemente
authors: VC
authors: Mendoza Rojas
authors: Programa de Medicina, Facultad de Ciencias de la Salud, Universidad Autónoma de Bucaramanga.
authors: Claudia Janeth
authors: CJ
authors: Uribe Pérez
authors: Grupo de investigación en Genética Humana, Escuela de Medicina, Universidad Industrial de Santander.
authors: Gustavo Adolfo
authors: GA
authors: Contreras-García
mesh_terms: D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D057770:Hyaline Fibromatosis Syndrome / Q000175:diagnosis; D007223:Infant; D010641:Phenotype