Myofibroma: From protein losing enteropathy to liver tumor

The concept of this case report originated after treating two patients with myofibromas (uncommon pediatric tumors) who presented with very unrelated set of symptoms and responded to different management approach. The first case presented as protein losing enteropathy in infancy not responding to usual treatment and the other as a huge liver mass with weight loss. After detailed literature search we found scattered reports and conflicts regarding the treatment which led to this draft. On consultation with the senior authors who are in academic gastroenterology practice for more than 25 years the decision was made to draft and share this case report.

Myofibromas are rare fibrous tumors, which can be solitary (myofibroma) or multiple (myofibromatosis). They can be dermatological or visceral in origin. Usually the dermatological tumors are benign and have good prognosis while those with visceral involvement are associated with poor outcome. The extent and location of these lesions are the important prognostic factors with a mortality rate of 75% with multifocal visceral involvement. The major difficulty in diagnosis is variable clinical presentation of these tumors. We report two cases which represent the wide clinical spectrum of these tumors ranging from protein losing enteropathy in infancy to liver tumor in childhood. Delay in the diagnosis and inappropriate management can be life threatening as each requires a specific treatment approach.