gms | German Medical Science

Aim: Atypical presentation of childhood rhabdomyosarcoma may lead to initial misdiagnosis and an unfortunate delay in treatment. Two cases of rhabdomoyosarcoma presenting as eyelid lesions with early diagnosis of chalazion will be discussed.

Material & Methods: Case report series of two patients with an atypical presentation. The first case is a 5-year-old female who presented with an upper eyelid mass with no surrounding inflammation and followed by her primary doctor as a chalazion. And the second is a 17-year-old male with a chalazion-like lesion in the lower eyelid. In both cases, the early misdiagnosis of benign chalazion led to a delay in definitive diagnosis and treatment.

Results: In our first case, the non-resolving chalazion was referred to ophthalmology where orbital extension was palpated leading to a prompt orbital biopsy. The pathology was embryonal rhabdomyosarcoma and chemotherapy was initiated. In the 17-year-old male, the “chalazion” underwent rapid growth with increased inflammation and ophthalmology was then consulted for drainage. Orbital involvement was noted on examination. Urgent biopsy revealed alveolar rhabdomysosarcoma and prompt treatment was instituted.

Conclusion: Rhabdomyosarcoma is the most common primary orbital malignancy of childhood with average onset between 8–10 years. Classically it presents with rapidly progressing proptosis and inflammatory signs. Urgent diagnosis and treatment are indicated, as delay may result in worsening prognosis. Treatment usually involves systemic chemotherapy. Occasionally atypical presentation may confound the diagnosis and a high index of clinical suspicion should be maintained. Both of our patients had an apparent benign eyelid lesion with no significant inflammatory signs and were initially followed as chalazia, which delayed the referral. Continuing education at the primary physician level about this rare but serious tumour is recommended.