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1.
Cureus ; 16(4): e59195, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38807802

ABSTRACT

Primary giant cell tumors of soft tissues (GCT-ST) are rare neoplasms that share histopathological and immunohistochemical characteristics with osseous giant cell tumors. While GCT-ST generally exhibits a benign progression and can affect individuals of various ages, older patients may face a higher risk of recurrence and aggressive disease progression. In this case report, we present the case of a 63-year-old woman who experienced recurrent GCT-ST nine months after the complete excision of an initially localized tumor. Despite the mainstay treatment of GCT-ST being tumor-free margin surgical excision, this case demonstrates the occurrence of recurrences. The etiology of recurrence in GCT-ST remains unclear, highlighting the need for further studies and careful patient follow-up to prevent potential complications such as lung metastasis or widespread metastasis. Thus, this report aims to raise awareness of these tumors and emphasize the importance of diligent patient follow-up to facilitate early identification and management, thereby preventing potential complications such as lung or widespread metastasis.

2.
Cureus ; 15(10): e46644, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37937039

ABSTRACT

Alkaptonuria is a rare genetic disorder characterized by the excessive production of homogentisic acid, leading to the formation and deposition of pigment polymers throughout the body. It is extremely rare, affecting only around one in 100,000 individuals. Despite the normal life expectancy, it can cause severe morbidities. Alkaptonuria is typically managed supportively with pain medication, dietary modifications, and surgical interventions, which are considered to be the gold standard of therapy. Here we present a case of a 33-year-old male with no previous medical or surgical history who presented with severe acute back pain radiating to the left leg. Genetic testing confirmed a homozygous pathogenic variant for alkaptonuria. This case highlights the challenges in diagnosing alkaptonuria, emphasizing the significance of early detection, and clinical evaluation for improved outcomes. Furthermore, it underscores the need to consider alkaptonuria as a multidimensional disease, necessitating further research to enhance our understanding and develop effective management. Therefore, this study serves as an opportunity for future trials and studies aimed at digging deeper into the intricacies of alkaptonuria to increase our understanding and establish comprehensive management plans for affected individuals.

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