Cutaneous and subcutaneous metastases from internal malignancies are rare and indicate a dismal outcome for the patient. This study is designed to analyze cases of cutaneous and subcutaneous metastases from a known or unknown primary and evaluate usefulness of fine needle aspiration cytology as a diagnostic modality. The present study is a retrospective analysis of 83 patients who were diagnosed with metastatic skin deposits on fine needle aspiration cytology. Seventy-four patients were previously diagnosed cases of malignancy and nine patients had metastatic deposits simultaneously with the primary tumor. The commonest malignancies showing cutaneous metastases were from breast, colon and rectum, lung, ovary, and thyroid. The differential diagnoses are from primary cutaneous tumors. FNAC provides a rapid diagnosis and should be used as a preferred first line diagnostic modality in such patients. In our study, FNAC yielded a sensitivity and specificity of 100% as a microscopic method for confirmation.
Primary branchial cleft carcinoma is a diagnostic challenge. The majority of cases have been shown, following the application of rigid criteria, to have developed from an occult metastasis elsewhere.We describe what we believe to be only the second reported case in a patient who fulfils all of the established criteria.
We report a rare case of metastasis of a follicular carcinoma of the thyroid to the sino-nasal cavity 12 years after diagnosis and treatment of the primary malignancy and review the literature of previously reported cases.
BackgroundGlycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare. The underlying pathogenesis for developing diabetes in these patients is unclear, and there are no guidelines for treatment.Case presentationWe describe a case of a 34-year-old woman of South Asian descent with glycogen storage disease type Ia, who developed uncontrolled diabetes mellitus as a young adult. Hyperglycemia was noted after childbirth, and worsened years later. Treatment for diabetes was difficult due to risks of hypoglycemia from her underlying glycogen storage disease. With minimal hypoglycemic events, the patient’s blood glucose improved with exercise in combination with a sodium-glucose co-transporter 2 inhibitor and an alpha glucosidase inhibitor.ConclusionWe report a rare case of diabetes in the setting of glycogen storage disease-Ia. Based on the literature, there appears to be a relationship between glycogen storage disease and metabolic syndrome, which likely plays a role in the pathogenesis. The management of glycemic control remains a clinical challenge, requiring management of both fasting hypoglycemia from glycogen storage disease, as well as post-prandial hyperglycemia from diabetes mellitus.
BackgroundMalignant steroid cell tumors of the ovary are rare and frequently associated with hormonal abnormalities. There are no guidelines on how to treat rapidly progressive Cushing’s syndrome, a medical emergency.Case presentationA 67-year-old white woman presented to our hospital with rapidly developing signs and symptoms of Cushing’s syndrome secondary to a steroid-secreting tumor. Her physical and biochemical manifestations of Cushing’s syndrome progressed, and she was not amenable to undergoing conventional chemotherapy secondary to the debilitating effects of high cortisol. Her rapidly progressive Cushing’s syndrome ultimately led to her death, despite aggressive medical management with spironolactone, ketoconazole, mitotane, and mifepristone.ConclusionsWe report an unusual and rare case of Cushing’s syndrome secondary to a malignant steroid cell tumor of the ovary. The case is highlighted to discuss the complications of rapidly progressive Cushing’s syndrome, an underreported and often unrecognized endocrine emergency, and the best available evidence for treatment.
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Background Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder which presents with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Mitochondrial diabetes is the cause in 1% of all diabetic patients. Here we present a case of a patient with insulin dependent diabetes mellitus (DM) who experienced sensorineural deafness and was diagnosed with MELAS. Case 33-year-old female presented with stroke like symptoms in December 2018. Medical history was significant for Diabetes Mellitus (DM), bilateral deafness and end stage renal disease requiring peritoneal dialysis with subsequent kidney transplant. On presentation, she had left sided weakness, lab work revealed lactic acidosis. MRI brain showed large areas of restricted diffusion in right hemisphere and cerebral edema. CSF analysis was positive for lactate and pyruvate. Left lower extremity muscle biopsy and mitochondrial genome analysis were positive for m.3243A>G in the MT-TL1 with 80% heteroplasmy, confirming the diagnosis of MELAS. Patient was started on Arginine, CoQ10, Levetiracetam, phenytoin, IVIG and her symptoms improved. DM was diagnosed in 2013 when patient was on peritoneal dialysis. Family history significant for type 2 DM in maternal uncle. Discussion Mitochondrial diseases are rare, maternally inherited, heterogeneous conditions caused by mutations in mitochondrial DNA and present with a variety of clinical symptoms. Mitochondrial diabetes results from the 3243 A>G gene mutation, responsible for both MELAS and Mitochondrial inherited diabetes and deafness (MIDD). MELAS presents with encephalopathy, stroke like symptoms and lactic acidosis (1). MIDD presents with nerve deafness, which usually occurs at an early age (2). In our patient, she presented with neurological symptoms suggesting MELAS and bilateral deafness suggesting MIDD. Her presentation is unusual and constitutes an overlap between both disorders. Conclusion Early recognition and diagnosis of mitochondrial diabetes is important. The diagnosis has important genetic implications for other family members. This case report highlights the presentation of MELAS and MIDD and importance of genetic studies in the confirmation of diagnosis 1) D. M. Sproule and P. Kaufmann, "Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome," Annals of the New York Academy of Sciences, vol. 1142, pp. 133–158, 20082) Murphy R, Turnbull DM, Walker M, Hattersley AT. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabetic Medicine 2008. Apr;25(4): 383-99. doi: 10.1111/j.1464-5491.2008.02359.x.Epub 2008 Feb 18. PMID: 18294221. Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.
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