Malignant Melanoma Presenting as a Parotid Mass in a Middle-aged Woman with Metastasis to the Breast

Introduction: Malignant melanomas of the parotid gland are relatively uncommon and usually seen as metastases from cutaneous or mucous sites of the head and neck region. Some malignant melanomas may metastasize before they regress. Therefore, identifying the primary origin of metastatic melanoma is sometimes difficult. Furthermore, metastasis to the breast from an extramammary site is uncommon and challenging. It may present as a well-defined rounded mass that histopathologically mimics the various architecture and cellular phenotypes. In addition, the immunohistochemical stains of some metastatic melanomas are equivocal and challenging. Case Presentation: We presented a case of parotid gland malignant melanoma in a 42-year-old woman with metastasis to the breast in a short interval. Biopsy of parotid and breast lesions showed loss of immune-reactivity for several melanoma markers and was initially considered as malignant peripheral nerve sheath tumor and primary breast tumor, respectively. Conclusions: This case highlights the importance of obtaining past clinical history in surgical pathology cases to make a correct diagnosis. It also enhances our understanding regarding malignant melanoma as a mysterious tumor with various morphology and immunophenotype.

MPL-Positive Essential Thrombocytosis Presenting as Budd-Chiari Syndrome in a Middle-Aged Woman with an Initially Normal Platelet Count

Budd-Chiari syndrome (BCS) results from an occlusion of the hepatic venous flow which in turn leads to portal hypertension causing ascites and other signs of liver dysfunction. Here, we present the case of a 43-year-old woman with recurrent ascites who was found to have BCS secondary to an inferior vena cava thrombosis extending into the hepatic veins. Although she had a normal platelet count on admission, additional laboratory investigations revealed an MPL mutation. She was discharged on anticoagulation with apixaban and later found to have thrombocytosis on repeat blood work, confirming the diagnosis of essential thrombocytosis, following which she was started on myelosuppressive therapy with hydroxyurea.

Is It Time to Utilize Genetic Testing for Living Kidney Donor Evaluation?

Living donor kidney transplantation is an effective strategy to mitigate the challenges of solid organ shortage. However, being a living kidney donor is not without risk, as donors may encounter short- and long-term complications including the risk of developing chronic kidney disease, end-stage kidney disease, hypertension, and possible pregnancy-related complications. Although the evaluation of potential living donors is a thorough and meticulous process with the intention of decreasing the chance of complications, particularly in donors who have lifetime risk projection, risk factors for kidney disease including genetic predispositions may be missed because they are not routinely investigated. This type of testing may not be offered to patients due to variability and decreased penetrance of symptoms and lack of availability of appropriate genetic testing and genetic specialists. We report a case of a middle-aged woman with a history of gestational diabetes and preeclampsia who underwent an uneventful living kidney donation. She developed postdonation nonnephrotic range proteinuria and microscopic hematuria. Given the risk of biopsy with a solitary kidney, genetic testing was performed and revealed autosomal dominant Alport syndrome. Our case underscores the utility of genetic testing. Hopefully, future research will examine the incorporation of predonation genetic testing into living kidney donor evaluation.

The Curious Case of a Missing Gallbladder: An Unusual Presentation of a Cholecystoduodenal Fistula

Large gallstones could erode through gallbladder wall to nearby structures, causing fistulas, gastric outlet obstruction and gallstone ileus. They typically occur in elderly patients with comorbidities carrying therapeutic challenges. We present a case of a middle-aged woman who was thought to have symptomatic cholelithiasis. Extensive adhesions precluded safe cholecystectomy. While hepatobiliary iminodiacetic acid scan and magnetic resonance imaging with cholangiopancreatography (MRI-MRCP) failed to visualize the gallbladder, computed tomography (CT) was consistent with cholecystoduodenal fistula. A very large gallstone was seen endoscopically in the duodenum, which was broken down into pieces using a large stiff snare.

Cavitary Legionella Pneumonia in AIDS: When Intracellular Immunity Failure Leads to Rapid Intrapulmonary Cavitation

Introduction. Legionella is a frequent cause of bacterial pneumonia in patients with AIDS. While multiple organisms have been associated with cavitary pneumonia in this population, Legionella has not. Clinical Case. A middle-aged woman with HIV-AIDS and severely depressed CD-4 count presented with one month of progressively worsening productive cough and dyspnea. Serial imaging showed focal consolidations which multiplied and cavitated over the subsequent days. Legionella urine antigen was positive, and appropriate treatment was continued for 3 weeks total. The patient recovered quickly, and follow-up imaging 8 weeks later showed near-resolution of all lesions. Discussion. Cavitary pneumonia secondary to Legionella has been seldom described, traditionally in the context of immunosuppressive therapy. Patients with AIDS and severely depressed CD4 counts have significantly compromised cell-mediated immunity. This case highlights the importance of consideration for legionellosis in rapidly progressing cavitary pneumonia, especially in patients with severely compromised cell-mediated immunity, including those with HIV-AIDS.

An unusual complication after augmentation genioplasty: odontogenic infection requiring implant removal

Augmentation genioplasty is a common surgical procedure with extremely low infection rates. We present the case of a healthy middle-aged woman who experienced years of chronic infection after chin implantation due to a fractured mandibular canine root, which is exceedingly rare. Awareness of this potential complication will reduce patient morbidity.

Primary Hyperparathyroidism in the Common Orthopaedic Practice

An extensive review of the publications on primary hyperparathyroidism (pHPT) is presented in this report. It has strongly been emphasized in the literature that patients with pHPT may present either with the classical symptomatology or with asymptomatic disease, emerged due to biochemical screening. The clinical and epidemiological presentation of pHPT in western countries has changed profoundly during the past few decades, and bone disease is nowadays a distinct rarity. The introduction of serum calcium screening for osteoporosis and the technological advances in the laboratory assessment of parathyroid hormone have played important roles in early diagnosis. Subsequently, the disease is increasingly being detected as asymptomatic hypercalcaemia without guiding signs or symptoms. A third type of disease, the normocalcaemic variant, has been recently described in the literature. However, the potential diagnosis of pHPT should always be on the orthopaedics’ list of differential diagnoses in female or elderly patients with vertebral fractures and nephrolithiasis, either symptomatic or asymptomatic, as well as when solitary or multiple osteolytic lesions are encountered on the radiographs. Additionally, a middle aged woman with parathyroid adenoma and subsequent brown tumors detected on the pelvic radiographs is reported. Her initial laboratory findings indicated a minimal increase of the serum calcium, a mild increase of the erythrocyte sedimentation rate, and a significant increase in total serum alkaline phosphatase. Finally, the detection of elevated parathyroid hormone levels indicated the diagnosis of pHPT and necessitated imaging studies of the parathyroid glands, which indicated a parathyroid adenoma. Following successful excision of the parathyroid adenoma, the patient suffered from the hungry bone syndrome. After a follow-up of 20 years, the patient had normal calcium, vitamin D, and parathyroid hormone serum levels, while a pelvic radiograph indicated no significant changes in the appearance of the brown tumors.

Improvement of hyperadrenergic postural orthostatic tachycardia syndrome (POTS) with methylated B vitamins in the setting of a heterozygous COMT Val158Met polymorphism

A middle-aged woman was diagnosed with postural orthostatic tachycardia syndrome based on her clinical symptoms, elevated norepinephrine levels and positive tilt-table test. The patient was refractory to conventional treatment and improved only after she was treated with methylated B vitamins for her heterozygous catechol-O-methyltransferase Val158Met polymorphism.

COVID-19 vaccine-associated subacute thyroiditis: an unusual suspect for de Quervain’s thyroiditis

Subacute thyroiditis following vaccination is an uncommon presentation of thyrotoxicosis. As the world undertakes its largest immunisation campaign to date in an attempt to protect the population from COVID-19 infections, an increasing number of rare post vaccine side effects are being observed. We report a case of a middle-aged woman who presented with painful thyroid swelling following the second dose of the COVID-19 mRNA vaccine BNT162b2 (Pfizer–BioNTech) with clinical, biochemical and imaging features consistent with destructive thyrotoxicosis. Symptomatic management only was required for the self-limiting episode. Thyroiditis typically has a mild and self-limiting course and thus this observation should not deter people from vaccination, as COVID-19 infection has a far greater morbidity and mortality risk than thyroiditis.