Jaw Swelling Back with Vengeance

Abstract

Rhabdomyosarcoma (RMS) is a highly aggressive lesion and is commonly seen in children below the age of 10 years. The survival rate is not very high as an early diagnosis is often difficult. However, the treatment involves mainly surgery followed by chemotherapy and sometimes radiotherapy.

Introduction

Rhabdomyosarcoma (RMS) was first described by Weber [1], but was classified by Stout [2]. It is a malignant and highly aggressive lesion seen commonly in childhood that develops from skeletal (striated) muscle cells which have failed to fully differentiate [3]. The incidence of RMS is approximately 4.5 case per 1 million children [4]. An accurate and early diagnosis is often difficult because of the heterogeneity and a lack of strong genetic markers of the disease [4]. However, its treatment involves a combination of surgery, chemotherapy, and radiation but the patient outcome varies considerably.

Case Report

A 11-year-old female reported to the department of oral and maxillofacial surgery for evaluation of swelling in right lower jaw. The swelling was present since 1 month. Clinical evaluation revealed diffuse, erythematous sessile swelling of the mandible. The radiographic evaluation revealed a diffuse radiolucency involving primary first and second molar within the mandible (Fig. 1a). The lesion was excised and submitted for biopsy. The histopathological evaluation revealed islands of round cells within the connective tissue stroma (Fig. 1b), the immunohistochemical evaluation for vimentin, desmin, S-100, Pan CK, LCA revealed no reactivity for the antibodies.

Fig. 1.

Photograph shows a radiographic presentation of the patient revealing a diffuse radiolucency involving primary first and second molar; b histopathological section of first biopsy showing islands of round cells within the connective tissue stroma, revealed no reactivity for the antibodies for IHC and; c clinical presentation of the patient after 15 days revealing diffuse, erythematous sessile swelling of the mandible

The patient reported back within 15 days of the procedure with the swelling of similar size (Fig. 1c) and was later referred to higher center which the patient failed to report.

The patient reported to the department a month later again with an aggressive lesion involving almost entire mandible crossing the midline (Fig. 2a). MRI was conducted and revealed a solid, expansile, fairly defined lesion with cystic & hemorrhagic areas causing destruction of buccal and lingual cortical plates and displacement of soft tissues (Fig. 2b). Patient was referred to higher center and second biopsy was done which revealed numerous atypical round cells (with cellular and nuclear pleomorphism), slender elongated cells (tadpole cells) with areas of hemorrhage (Fig. 2c). Based on the clinical presentation, radiographic and histopathological feature, a diagnosis of Alveolar rhabdomyosarcoma was given. The patient’s family was reluctant for surgical intervention and did not turn up.

Fig. 2.

Photograph shows a clinical presentation of the patient after 1 month, showing aggressive lesion involving almost entire mandible crossing the midline; b MRI of the patient after 1 month revealed a solid, expansile, fairly defined lesion with cystic & hemorrhagic areas and; c histopathological section of the second biopsy revealing numerous atypical round cells (with cellular and nuclear pleomorphism), slender elongated cells (tadpole cells) with areas of hemorrhage

Discussion

Rhabdomyosarcoma (RMS) is an aggressive soft tissue sarcoma affecting the younger age group [3]. Around 35–40% of RMS occurs in the head and neck region [5]. They are classified as parameningeal and non-parameningeal forms [4]. However, oral cavity involvement is relatively uncommon, 10–12%, with tongue, soft palate, hard palate, and buccal mucosa being the sites of predilection [5]. Moreover, intraosseous occurrence of RMS is very rarely reported [6]. Tumor microscopically demonstrates primitive mesenchymal cells. The pathogenesis is believed to be due to proliferation of embryonic mesenchymal tissue [3]. The radiographic presentation of the case suggests a possibility of origin of RMS from the mandible. The growth of the tumor was aggressive and recurred in a very short span of time causing severe destruction. Adding to the peculiarity of the case, the negative Immunohistochemical panel on the initial biopsy, which included vimentin, desmin, LCA, S-100, Pan CK. The cellular changes histopathologically as seen under the microscope correlated with the aggresive behaviour of the tumor clinically. The presentation of this case suggests the inclusion of rhabdomyosarcoma as a differential for aggressive jaw swellings.

Compliance with Ethical Standards

Conflict of interest

The authors disclose no conflict of interest.