A Case of a Typical Juvenile Hyaline Fibromatosis

Karthik Vishwanath, Nikhil S Shetty and Abhishek A Jha

Department of Plastic Surgery, KS Hegde Medical Academy, India

^*Correspondance to: Abhishek A Jha 

 PDF  Full Text DOI: 10.25107/2474-1647.1345

Abstract

Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees. It typically becomes apparent at birth or in infancy, causing severe pain with movement and progressive joint contractures. It is caused by mutations in the ANTXR2 gene. Histopathological examination (HPE) of the cutaneous lesions is unique and characterized by an accumulation of an amorphous, hyaline material in the dermis with increased number of fibroblasts. This disease has a progressive course with most patients surviving only up to the 4 decade. As of now, there is no specific treatment for this disorder. The treatment is only aesthetic and its aim is to limit orthopedic disability. We herein present a case report of 40 year old male with history of multiple swellings over the body since age 1. He has history of multiple surgeries for excision of swelling with recurrence reported at operated site. It is worthwhile considering that as per literature only 70 cases has been reported worldwide.

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Cite the article

Vishwanath K, Shetty NS, Jha AA. A Case of a Typical Juvenile Hyaline Fibromatosis. Clin Surg. 2017; 2: 1345.