Congenital Generalized Fibromatosis with Complete Spontaneous Regression

Abstract

A case of congenital generalized fibromatosis with multiple bone involvement is reported. The disease is often fatal, and often involves many systems with fibroblastic lesions which are present at birth or shortly thereafter. Our case is the fourth reported case with extensive bone involvement. All of the lesions in our case have completely or almost completely disappeared during the first eighteen months of life.

Case Details

Personal Characteristics

The patient, a white girl, was born at term weighing 2.5 kilograms. The circumstances of gestation and delivery were normal. There was no family history of neurofibromatosis.

Clinical Characteristics

At birth the patient had fifty-nine firm subcutaneous nodules, 0.25 to 1.5 centimeters in diameter. The infant fed and sucked poorly and frequently regurgitated and she had a weak cry. She gradually improved but continued to gag and regurgitate. She was admitted at the age of six weeks to the children’s hospital of philadelphia, because of coughing during and after feedings, and respiration stridor, especially after feeding. Her appetite was good and she had reached her developmental milestones adequately. Her general physical examination, except for rhonchi, noted on both inspiration and expiration, was normal. There were multiple firm nodules under the skin which ranged from fully moveable to relatively fixed, including one over the right scapula and one over the medial part of the left clavicle. A cavus deformity of the right foot was present with complete absence of function of the anterior tibial and extensor hallucis longus muscles. This was felt to be due to pressure of a fibrous lesion on either the sciatic, anterior tibial, or peroneal nerve. The routine laboratory studies were normal. The roentgenogram of the lungs was normal, as was an electroencephalogram. The roentgenograms showed multiple lytic lesions of the ribs, left clavicle, femora, tibiae, fibulae, and humeri. There were no lesions in the skull. A number of the soft tissue nodules contained ill-defined areas of calcification.

Remission Characteristics

Many of the subcutaneous lesions disappeared during the first year of life and the remainder decreased in size. Roentgenograms made at thirteen months of age showed complete healing of the majority of the bone lesions and partial healing of the remainder. At the last follow-up, when the patient was eighteen months old, virtually all nodules had resolved and the patient’s swallowing function, as shown roentgenographically, was without evidence of aspiration.

Treatment & Mechanisms

Proposed Remission Mechanisms

Not discussed

Clinical Treatment

Due to incoordination of the swallowing mechanism, a gastrostomy and jejunostomy were performed on the seventeenth day after admission. The patient tolerated tube feedings well and except for an episode of obstruction of the pylorus by the gastrostomy tube requiring repositioning of the jejunostomy, there were no subsequent nutritional problems and the patient was discharged from children’s hospital at age five months doing well. The right foot was supported in a bivalved leg cast and stretching exercises were begun. Over the next few months she partially regained function of the paralyzed muscles of her right leg and electromyograms of the involved muscles of the right lower extremity done at age six months were normal.

Additional Notes

The disease is often fatal, and often involves many systems with fibroblastic lesions which are present at birth or shortly thereafter. Our case is the fourth reported case with extensive bone involvement. All of the lesions in our case have completely or almost completely disappeared during the first eighteen months of life.