case_images: PMC10641497_01
case_images: (A) Image of the infant's face taken on presentation demonstrating numerous facial lesions, particularly large midline face mass. The mass extended centrally from her forehead, down the length of her nose, to the midway on her right cheek, obscuring the right eye completely and the left eye partially. An additional large round mass was located above her right parotid gland with no extension noticed in her mouth, including the hard palate. (B) Initial MRI of the brain/face showing lesions predominately in the midline of the infant's face as well as the right parotid gland.
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case_images: F1
case_images: Her initial physical exam was significant for a large midline mass distorting her eyes and nose with additional mass above her right parotid gland (Figure 1A). No evidence of calvarial or intracranial involvement was reported (Figure 1B).
case_images: (A-C) A skin biopsy showed a dermal and subcutaneous infiltrate of hyperchromatic round cells (A, H&E). In some areas, the tumor cells line the thin fibrovascular septa and form aggregates within the intervening spaces, typical of the alveolar pattern of rhabdomyosarcoma (B, H&E). The diagnosis is confirmed by a strong nuclear positivity for myogenin (C, myogenin immunohistochemistry).
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case_images: F2
case_images: A biopsy of a right lower-extremity skin nodule showed a dermal and subcutaneous infiltrate of small round blue cells (Figure 2A). Focally, the tumor showed an alveolar pattern, indicated by some tumor cells lined along the fibrovascular septa and other discohesive tumors within intervening spaces (Figure 2B). The tumor cells showed cytoplasmic positivity for desmin and diffuse strong nuclear positivity for myogenin (Figure 2C).
case_images: (A) Image of the infant's face taken after completion of cycle 1 with a notable reduction in the size of the facial lesions; the infant was able to fully open her eyes spontaneously at this point in therapy. (B) MRI of the brain taken prior to starting salvage therapy with an almost complete resolution of intracranial metastases and a notable reduction in the size of prior tumors.
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case_images: F3
case_images: After the first cycle of chemotherapy, the lesions began to rapidly reduce in size, and she was able to open her eyes spontaneously (Figure 3A). She tolerated two cycles with continued improvement of all superficial lesions and an almost complete resolution of intracranial metastases (Figure 3B).
case_images: Follow-up MRI of the brain/orbit demonstrating diffuse intracranial metastatic spread and enlargement of facial lesions.
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case_images: F4
case_images: Clinically, the facial lesions began to increase in size, and imaging confirmed diffuse disease progression with extensive intracranial metastases and an increase in the size of the midline nasal bridge/frontal scalp mass, right premolar soft tissue mass, and right anterior parotid mass, with development of internal necrotic changes (Figure 4).