RESUMEN
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder that predisposes patients to cutaneous tumors, pulmonary cysts with recurrent spontaneous pneumothoraces, and a variety of renal neoplasms including hybrid oncocytic and chromophobe renal cell carcinomas. There has been much debate regarding the genetic link with the occurrence of colorectal cancer and other colonic anomalies. Associations between BHD and intestinal adenomatous polyposis and sigmoid diverticulosis have been described in the literature, but there have been no prior reports of appendiceal diverticulosis in patients with BHD. Here, we present a 40-year-old female patient with a known family history of BHD, who was found to have diverticulosis of the appendix and pulmonary blebs on computed tomography upon routine screening for renal and pulmonary abnormalities, suggesting additional focus be given to the gastrointestinal tract (including the appendix) at the time of CT assessment.
RESUMEN
Mesenchymal chondrosarcoma is a rare and aggressive chondrogenic neoplasm arising from the bone or the soft tissue. Mesenchymal chondrosarcomas develop outside the osseous structures in about one-third of cases, and the majority of these occur in the meninges and the brain parenchyma. Intramuscular extraskeletal mesenchymal chondrosarcoma (EMC) is exceedingly rare, with very few cases reported in the literature. Although mesenchymal chondrosarcoma has a high potential for metastasis, there have been no reports of pulmonary metastasis from an EMC of intramuscular origin. Here, we describe a patient who came to our facility with a history of progressively worsening left lower extremity pain and swelling, and was found to have pathology-proven EMC originating in the left adductor magnus, with complete workup demonstrating multiple bilateral pulmonary metastases in addition to a possible metastatic focus in the right adrenal gland discovered during the interval surveillance period.