Concurrent Cutaneous and Retropharyngeal Rhabdoid Tumors in a Female Infant: A Rare Case Report and a Review of the Literature

Abstract

Rhabdoid tumors are rare tumors that are usually diagnosed in the pediatric population and originate from renal tissues. Extrarenal rhabdoid tumors are even rarer, aggressive, and more difficult to diagnose than rhabdoid tumors. In our case, a 3-month-old female infant presented with deteriorating respiratory symptoms of stridor and dyspnea, with septic shock and multiple subcutaneous nodules involving the axilla and back. Physical examination revealed multiple nontender and mobile nodules on the right axilla and the back. Computed tomography scan revealed a retropharyngeal mass with signs of lung infiltration. An excisional biopsy of the axillary mass with immunohistochemistry confirmed the diagnosis of an extrarenal rhabdoid tumor. However, the patient died from septic shock shortly before the tissue diagnosis was established. Rhabdoid tumors are rare malignancies that require a high suspicion index. Nonregressive infantile nodules should raise suspicion of a sinister cause and should not be dismissed prematurely. Outcomes remain poor due to diagnostic and therapeutic delays and limitations.

Keywords

case report - malignant rhabdoid tumor - SMARCB1 - extrarenal rhabdoid tumor - multifocal

Patient Consent

Written informed consent was obtained from the patient's guardian to publish this case report and accompanying images, and identifying details were omitted to guarantee anonymity.

Authors' Contributions

All authors contributed to the literature review and writing of the initial manuscript. B.A. and M.D.A. contributed to data interpretation, writing, and revision of the final manuscript. M.D.A., M.A., and A.A.-K.S. prepared the figures. All authors approved the final manuscript. A.A.-K.S. is the corresponding author.

Publication History

Article published online:
21 March 2025

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