Received: 1 Apr, 2013 Accepted: 13 Jun, 2013

Abstract

Juvenile hyaline fibromatosis is a rare genetic disease that is characterized by multiple papulonudular skin lesions, gingival hypertrophy and joint contracture. According to our knowledge, less than 70 cases with features suggesting the diagnosis have been reported. It is an autosomal recessive disease that is usually detected in infancy or early childhood.

We report a 14-year old boy, who presented skin colored to erythematous painless rubbery nodules on the scalp, face, hand, and feet and flexion contracture on both elbow and gingival hypertrophy.

Radiological findings showed erosion at the end of distal phalanxes with marginal sclerosis and soft tissue masses on toes. Pathological finding were an increased number of fibroblasts embedded in an amorphous eosinophilic hyalinized matrix. Some stoma cells were observed in the lacuna-like spaces (chondroid cell) within this material.

For our patient, the diagnosis of JHF was based on the presence of typical tumoral lesions, gingival hyperplasia, joint contracture, and the characteristic histopathological findings. The presence of amorphous hyaline material in the dermis supported our diagnosis of JHF.