Medicina
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Primary retroperitoneal mucinous cystadenocarcinomas (PRMCs) are extremely rare tumors with limited understanding of their pathogenesis and biological behavior. We describe a case of a 50-year-old female patient who underwent surgical treatment. The patient had a history of previous surgeries for mesenteric mucinous cystadenoma, without evidence of recurrence. ⋯ PRMCs are challenging to diagnose preoperatively due to nonspecific symptoms. Surgical excision is the mainstay of treatment. The long-term prognosis and optimal therapeutic strategies require further investigation.
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Metastases to the thyroid gland from nonthyroidal malignant tumors are rare but significant. They are often asymptomatic, indicating advanced-stage primary tumors and poor prognosis. Although infrequently, breast cancer (BC) can metastasize to the thyroid gland. ⋯ BC can metastasize to the thyroid. Diagnosis involves imaging, FNAB, and immunohistochemistry. Treatment options include surgery, radiotherapy, and chemotherapy, but the prognosis is generally poor.
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Esophageal adenoid cystic carcinoma (EACC) is an exceedingly rare malignant tumor constituting only 0.2% of all esophageal tumors. The tumor exhibits aggressive behavior, composed histologically of ductal and modified myoepithelial cells. We report a case of a 69-year-old female with a diagnosis of an EACC by preoperative endoscopic biopsy. ⋯ EACC presents diagnostic and therapeutic challenges due to its rarity and aggressive nature. Prognostic considerations remain unclear, emphasizing the need for further research and accumulated cases to delineate optimal treatment. The presented case demonstrates a 1-year survival with systemic palliative care, contributing to the evolving knowledge surrounding EACC.
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Case Reports
Systemic autoinflammatory disease, IgA glomerulonephritis and renal cortical necrosis: coincidence or causation?
We present a patient with a rare systemic autoinflammatory disease (mevalonate kinase deficiency -MKD-) with the identification of two heterozygous variants (c.1129G>A and c.32C>T) in the Mevalonate Kinase gene, detected by next generation sequencing and a highly prevalent glomerulonephritis (IgA nephropathy). The patient presents clinically with a monthly recurrent periodic fever from 12 days of age, accompanied by mucocutaneous lesions (maculopapular rash in extremities, aphthous stomatitis), joint (arthralgias in ankles, wrists and knees), lymphoid (cervical lymphadenopathy, splenomegaly), gastrointestinal (diarrhea, abdominal pain) and kidney (hematuria and proteinuria) with repeated biopsies showing IgA nephropathy alternating activity with chronicity. During follow-up. ⋯ Therecurrent episodes of inflammation due to MKD could act as triggers for the reactivation of glomerulonephritis (which would explain the poor response to immunosuppressants and the rapid progression to histological chronicity) and to generate a microenvironment that predisposes the development of RCN in the face of a non-serious infection. A defect in IgA molecules has been described in MKD, a phenomenon also observed in IgA nephropathy. This raises the challenging hypothesis of a common pathogenetic link between all the patient's clinical manifestations.
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Pediatric melanomas are rare and some of them may arise on giant congenital melanocytic nevi. The risk of developing melanoma on a medium-sized nevus is not clear but is thought to be very rare. Proliferative cellular nodules which mimic malignant melanoma may pose significant diagnostic challenges. We report the case of a 9-year-old patient who developed a melanoma on a medium-sized congenital melanocytic nevus on the tip of the nose, requiring a complex surgery with excellent aesthetic results.