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

Jeffrey A. Toretsky, MD; Stefan Zöllner, MD

Disclosures

October 08, 2019

Discussion

Facial swelling is a common clinical problem in the pediatric population. The origins of a facial mass or swelling can vary from congenital causes to acquired conditions (eg, infection) and benign tumors or cancer in soft tissue or bone. The clinical history, a thorough physical examination, and knowledge of the location and clinical characteristics of a lesion are the most important factors in the evaluation of facial swelling to formulate a differential diagnosis and plan further diagnostic procedures.

The general clinical manifestations of facial swelling can be classified into four groups: acute swelling with inflammation, nonprogressive swelling, slowly progressive swelling, and rapidly progressive swelling.

An inflammatory process is the most common type of facial swelling in childhood; lymphadenitis is its most common cause, followed by sinusitis and odontogenic infection. Nonprogressive midfacial swelling is suggestive of a congenital anomaly (eg, frontoethmoidal cephalocele, nasal glioma, nasal dermoid, epidermoid cyst). Slowly progressive swelling may be secondary to an underlying mass, such as neurofibroma, lymphatic or vascular malformation, or hemangioma; it may also be due to an osseous disease, such as fibrous dysplasia.

Rapidly progressive lesions with associated cranial nerve deficits are suggestive of cancer.[1,2] The cancer differential diagnosis for rapidly progressive facial swelling in childhood should include rhabdomyosarcoma, Langerhans cell histiocytosis, metastatic neuroblastoma, lymphoma, and Ewing sarcoma (ES).[3]

ES is a highly malignant tumor of the bone and soft tissue that is presumed to be of mesenchymal origin; it is typically diagnosed in the second decade of life.[4,5] Histologically, ES consists of small, round to ovoid hyperchromatic cells with minimal cytoplasm (Figure 2). In 75% of cases, PAS staining results are positive. Overexpression of the surface membrane protein CD99 is a universal feature of ES; although similar to PAS staining, it is not wholly specific (Figure 3).[6,7]

Figure 2.

Figure 3.

Molecular biological examinations are often required to confirm diagnosis. In 95% of ES cases, a balanced EWS/ETS translocation is detected.[8] The chimeric fusion protein functions as a powerful transcription regulator. Despite multimodal treatment including definitive local management, 30% of patients with localized disease and 75%-80% of patients with metastatic disease die within 5 years of diagnosis.[9,10]

Primary malignant tumors of the jaws are rare; the diagnosis and treatment of ES in this setting can be challenging. In addition to their rarity, morphologic and immunohistochemical overlap is noted between tumors that most commonly arise in the head and neck region. ES comprises only 1%-9% of tumors at this site. Less than 3% of all ESs originate in the maxillofacial region, generally involving the mandible and less frequently the maxilla.[11,12] Most patients are males aged 5-20 years.

Clinical findings of ES in the head and neck regions are nonspecific and usually involve rapid growth, swelling, and pain. Moreover, when the mandible is involved, loosening of teeth, middle-ear infection, and paresthesia are not uncommon.[10,13,14] Systemic symptoms, such as slight or moderate fever that is often remittent, weight loss, and anemia, are occasionally observed and correlate with more advanced or metastatic disease.[15,16,17]

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