Neurofibromatosis with a huge tumor in the thorax.

A 48‐year‐old woman presented with occasional pain in her left back that had first developed one year earlier. She was a nonsmoker and denied any symptoms including the presence of hoarseness, cough and dyspnea. Physical examination showed dullness to percussion and diminished breath sounds on the left upper side of the chest. Laboratory data, including serum tumor markers were all within normal limits. Respiratory function tests were performed and forced expiratory volume in 1 second (FEV1) was 1.50 L. The rate of FEV1 to forced vital capacity (FVC) was 80.60%. Skin nodules initially appeared on the anterior chest wall and progressed to the whole body. Cutaneous and subcutaneous nodules were more extensive on the anterior and posterior trunk (Figure 1(a) and (b)). A small number of nodules appeared on the face, as well as on the tongue (Figure 1(c)). The size of the nodules ranged from 5 to 35 mm in diameter.

FIGURE 1

(a, b and c) Cutaneous and subcutaneous nodules were more extensive on the anterior and posterior trunk. A small number of nodules appeared on the face, as well as on the tongue. (d) Chest contrast‐enhanced computed tomography (CT) scan showed a large tumor in the left thorax and the results of histological examination of biopsy specimens from the tumor in the thorax was neurofibromatosis

Chest contrast‐enhanced computed tomography (CT) scan showed a large tumor in the left thorax, measuring 5.5 cm × 6.0 cm in size. The low‐density mass was adjacent to the thoracic vertebral body with local calcification foci on the edge, and no obvious enhancement inside the foci. The mass was causing compression of the left lung (Figure 1(d)). As a diagnosis was not established through imaging, and considering the age of patient, skin biopsy and CT‐guided percutaneous aspiration examination were scheduled. The results of histological examination of biopsy specimens from a nodule from the skin on her chest and the tumor in the thorax were consistent with neurofibromatosis. The patient received a diagnosis of neurofibromatosis type 1.

Neurofibromatosis type 1 is an autosomal dominant inherited disorder caused by neurogenic tumors arising from peripheral nerves and their supporting structures, including neurilemmal cells. Clinical findings can include Lisch nodules of the iris, schwannomas, café au lait macules and plexiform neurofibromas. Surgical resection can be used for cosmetic purposes, but the lesions may recur. The patient was scheduled for resection of the tumor by left posterolateral thoracotomy.

CONFLICT OF INTEREST

None declared.