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Figure it out fridays 

#67

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A 32-year-old lady weighing 37.5 kg and 147 cm tall presented with overhanging wing like mass on her back with scoliosis deformity. Initially the mass was a small pea size nodule over the right anterior chest wall which gradually increased in size since early childhood and extended to the back with wings like presentation by adolescence. On examination, the mass measured 60 cm × 41 cm with surface ulceration at the distal end. Multiple café-au-lait macules of different sizes and hard cutaneous nodules were present at the back, axilla, and thoracoabdominal regions.

She did not give history of past medical or surgical intervention. All the routine laboratory tests were normal. Thoraco-abdominal plain radiography antero-posterior view showed scoliosis deformity of cervical and thoracic spine. Magnetic resonance imaging revealed “S” shaped curve with an angular deformity at thoracic vertebrae involving T1–T7. No other abnormalities were seen in magnetic resonance imaging regarding centrum, intervertebral disk, and spinal cord. The patient did not undergo genetic testing. 

 

From the history and clinical examination, what is your diagnosis?

A. Schwannomatosis

B. Neurofibromatosis Type 1

C. Neurofibromatosis Type 2

D. Sarcoma

 

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