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Backgound: Myositis is characterized by proximal muscle weakness/ pain and can affect other organs, with skin involvement being common. Most cases are idiopathic, however it may be part of an autoimmune disease or paraneoplastic syndrome.

Case Report: We present an 82-year-old woman admitted for productive cough, fever and hypoxemia. Blood tests showed important rhabdomyolysis and mild C-reative protein increase. Community-acquired pneumonia was assumed and antibiotic therapy was started. Due to the lack of clinical improvement, a thoracic computed tomography was performed, which revealed not only interstitial lung disease, but also a left breast nodule. Breast nodule biopsy showed breast carcinoma. Staging was carried out with the absence of metastases and the diagnosis of Paraneoplastic Myositis with pulmonary involvement was assumed. Hormone therapy was initiated, followed by left mastectomy. Complete clinical recovery of the patient was obtained.

Conclusions: Interstitial lung disease is the most common and serious complication of inflammatory muscle disease. Complete clinical remission after removal of the neoplasm supported the diagnosis of paraneoplastic syndrome, and the patient continued with hormone therapy after surgery.

Background

Muir-Torre Syndrome (MTS) is an infrequent autosomal-dominant genodermatosis characterized by the presence of sebaceous tumors and visceral malignancies. These tumors typically manifest as sebaceous adenomas, epitheliomas, or carcinomas. Colorectal cancer is the most prevalent internal malignancy linked with MTS. The syndrome stems from germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1, aligning it with Lynch syndrome, also recognized as hereditary nonpolyposis colorectal cancer. Lynch syndrome involves inherited deficiencies in DNA mismatch repair genes, resulting in microsatellite instability.

Case Presentation

In this report, we describe the case of a 54-year-old man diagnosed with sebaceous adenomas. Given his family's history of colorectal cancer, genetic screening for hMSH2 genes was recommended. Molecular gene sequencing revealed two heterozygous deletion mutations in exon 7 and 9 of the hMSH2 gene in the patient.

Conclusion

This case underscores the significance of a multidisciplinary care approach, comprehensive medical history assessment, and timely identification of high-risk individuals. Such measures facilitate appropriate screening and surveillance, thereby mitigating the morbidity and mortality associated with this syndrome.