Hyaline fibromatosis syndrome: case report of two siblings

被引：4

作者：

Rangel Rivera, Diego Alejandro ^{[1
]}

Mendoza Rojas, Victor Clemente ^{[2
]}

Uribe Perez, Claudia Janeth ^{[3
]}

Adolfo Contreras-Garcia, Gustavo ^{[1
]}

机构：

[1] Univ Ind Santander, Escuela Med, Grp Invest Genet Humana, Santander, Spain

[2] Univ Ind Santander, Dept Pediat, Santander, Spain

[3] Univ Autonoma Bucaramanga, Fac Ciencias Salud, Programa Med, Santander, Spain

来源：

ARCHIVOS ARGENTINOS DE PEDIATRIA | 2015年 / 113卷 / 05期

关键词：

hyaline fibromatosis syndrome; joint contracture; gingival hypertrophy; INFANTILE SYSTEMIC HYALINOSIS; MUTATIONS; GENE;

D O I：

10.5546/aap.2015.e264

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：E264 / E267

页数：4

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