Juvenile hyaline fibromatosis – a case report and review of literature

Authors:Kopuri Ravi Kiran,
Int J Biol Med Res. 2012; 3(4): 2655-2657  |  PDF File

Abstract

Juvenile hyaline fibromatosis is a rare, autosomal-recessive connective tissue disorder characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees. The nose, chin, ears, scalp, back, and knees are the most common affected sites. We report a 2-year-old male born of first-degree consanguineous marriage who presented with multiple, painless, variable-sized nodules over anterolateral aspect of left foot. Histopathological examination of tissue from the nodules showed benign spindle cells in a Periodic acid Schiff-positive myxoid background and areas of calcification. The disease has a relentlessly progressive course, with most patients surviving only up to the 4th decade. As of now, there is no specific treatment for this disorder. Genetic counseling is essential to explain to parents about a 25% chance of having a diseased baby in any pregnancy.