An 11-Year-Old Girl With Facial Swelling and Leg Pain

Jeffrey A. Toretsky, MD; Stefan Zöllner, MD


October 08, 2019

In the case of a progressive facial lesion, even in the common setting of odontogenic infection with a presumed underlying abscess that might require drainage, imaging is indicated and should precede any invasive procedures. Often, the image pattern both gives diagnostic hints and also elicits the expansion of a mass, and it is needed to plan subsequent biopsy. Image patterns for osteomyelitis and cancer are similar.[18,36] If the clinical picture is indistinct, drainage specimens should be examined by a pathologist.

The clinical examination and imaging diagnostics can narrow the diagnosis only to a certain extent. Therefore, histopathologic examination is required, especially to distinguish among different cancers. In this case, metastatic carcinoma, muscular tumors, and various lymphomas were ruled out owing to negative tests for cytokeratin, desmin, and leukocyte common antigen, respectively. CD99 overexpression and expression of various neural markers, such as vimentin and S-100, are likely features of ES. Meanwhile, neuroblastoma does not express CD99 but is consistently positive for neurospecific enolase and chromogranin A. Rhabdomyosarcoma is often positive for smooth-muscle antigen, desmin, and myogenin.[37] Molecular pathologic examination for the chromosomal translocation using fluorescence in situ hybridization, spectral karyotype, or reverse-transcriptase polymerase chain reaction (RT-PCR) should finally confirm ES.

Survival rates for patients with ES of the head and neck seem to be significantly better if complete tumor resection can be performed.[14,38] Even when ES appears to be resectable, neoadjuvant chemotherapy is required to eradicate micrometastatic disease.[39] In the craniofacial area, complete resection may be difficult to achieve without significant cosmetic or functional defects.[40] The combination of ablative and reconstructive surgery within a single procedure is desirable to minimize deformity and overall treatment time and to prevent wound contraction and displacement of bony segments.[41,42]

Local control using radiation therapy in selected patients with ES was similar to that seen in surgical series reporting local tumor control rates of 90%-95% at 5 years.[43,44,45] Because use of surgery is often limited to patients with resectable lesions and radiation therapy is reserved for unresectable lesions, a direct comparison between the outcomes of the two modalities might be unjustifiable in craniofacial ES. Large tumors are poorly controlled locally by definitive irradiation, regardless of the radiation dose used; however, patients younger than 14 years might benefit most from radiation therapy as the sole local modality.[45]

All patients diagnosed with ES should be included in clinical trials and treated according to current therapeutic regimens. Local control is generally carried out after the sixth cycle of induction chemotherapy, with a preference for surgical intervention with or without additional radiotherapy.

In this case, staging procedures revealed no signs of systemic disease, and the patient was started on multiagent chemotherapy, including vincristine, ifosfamide, doxorubicin, and etoposide (according to the EURO-EWING 99 protocol). However, after the first chemotherapeutic cycle, the patient developed fever, neutropenia, and posterior sepsis, which was unsuccessfully treated with systemic antimicrobial therapy. A few days later, her systemic condition rapidly deteriorated and culminated with her death.

In conclusion, ES is a rare differential diagnosis of facial swelling in the pediatric setting. The fundamental challenge remains proper diagnosis and its confirmation, for adequate and timely treatment of the patient. Multimodal treatment including neoadjuvant chemotherapy is crucial. The choice of definitive local treatment in the craniofacial setting is debatable and must be adjusted to the individual case.


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.