Congenital generalized fibromatosis. Case report, with roentgen manifestations.

Abstract

Since the original description of congenital generalized fibromatosis by Stout (5) in 1954, only 2 cases of this rare condition could be found in the literature. The disease consists of a heterogeneous group of hyperplastic and dysplastic lesions of connective tissue, occupying a poorly defined position between proliferation and repair vs. unequivocal neoplasia (4). In none of the 3 previous case reports was there any significant discussion of the bony manifestations. It is the purpose of this paper to record another example and describe the roentgen manifestations in relation to the skeletal system. Case Report A white male infant was admitted to the Denver Children's Hospital at the age of three months, chiefly because of difficulty of breathing, loose, bloody bowel movements, and failure to gain weight. The illness had its onset at the age of one month with diarrhea and the appearance of subcutaneous nodules. The child was hospitalized at that time and roentgen examination showed a pulmonary infiltration, inflammatory in appearance, and multiple lytic bone lesions. At this first admission a biopsy of a subcutaneous lesion was interpreted as showing neurofibromatosis but on subsequent biopsy this diagnosis was changed to congenital generalized fibromatosis. After discharge, the child failed to thrive and he was readmitted to The Children's Hospital. Additional study revealed an uneventful prenatal history and labor. The mother and father were well. Siblings included a brother of seven, a sister aged two, both healthy, and an infant who had died thirty-six hours after birth, reportedly because of a “collapsed lung.” Physical examination showed a malnourished, poorly developed infant in moderate respiratory distress. The temperature was 99.4° F., pulse 152, and respirations 28. The height was 54.9 cm.; the weight, 8 lb.; the head circumference, 36.7 cm. Auscultation of the chest demonstrated decreased breath sounds and a tachycardia with P2 greater than A2. There were no murmurs. The liver was palpable 1.5 cm. below the right costal margin. Multiple soft subcutaneous boggy tumors were obin all the extremities, the thorax, and buttocks. Laboratory examination revealed a hemoglobin of 9.4 gin. per 100 c.c. and a leukocyte count of 10,000. Urinalysis was negative. Throat cultures showed growth of Staphylococcus aureus. Stool cultures showed Endamoeba coli were 1+ for occult blood. Additional laboratory findings were as follows: serum calcium, 9.8 mg. per 100 c.c, ionized protein, 5.2 mg. per 100 c.c, inorganic phosphorus 5.2 mg. per 100 c.c, alkaline phosphatase, 8.6 mg. per 100 c.c, total serum protein, 5.1 gm, per 100 c.c, with an albumin-globulin ratio of 0.7. Electrophoresis revealed a slight accentuation of the alpha-2 fraction and a depression of the alpha-1 globulins. The patient did poorly in the hospital and died after ten days. Bronchopneumonia was the immediate cause of death.