Project description:IntroductionSmooth muscle tumors of the vulva are more difficult to diagnose and are frequently mistaken as Bartholin cysts prior to surgery.Case presentationA 41-year-old female presented with a left vulvar mass that increased in size compared to the previous year. The patient had normal urination and a regular menstrual cycle. The presentation was not associated with dyspareunia, abnormal bleeding, and signs of infection (e.g., fever, vaginal discharge). The history of any sexually transmitted disease was inconclusive. There was also no family history of malignancy. Physical examination showed a solitary swelling mass, measuring 5 × 2 cm in the left labia majora at the site of the Bartholin gland. The mass was firm in consistency, partially movable, and non-tender with no inguinal lymphadenopathy. Histopathology after surgical removal revealed a benign vulvar leiomyoma.DiscussionLabia majora leiomyoma at the site of the Bartholin gland is rather uncommon. Some cases can develop into atypical leiomyoma or even leiomyosarcoma with local tissue infiltration.ConclusionIf the clinical picture is unusual, it is better to send the patient for ultrasound and MRI to exclude other causes followed by performing wide local surgical excision of the mass to allow proper histopathological and/or immunohistochemistry examination to differentiate between benign and malignant tumors.
Project description:Graves' disease (GD) may display uncommon manifestations. We report a patient with rare complications of GD and present a comprehensive literature review. A 35-year-old woman presented with a two-week history of dyspnea, palpitations, and edema. She had a raised jugular venous pressure, goiter, and exophthalmos. Laboratory tests showed pancytopenia, a raised alkaline phosphatase level, hyperbilirubinemia (mainly direct bilirubin), and hyperthyroidism [TSH: <0.01?mIU/L (reference values: 0.45-4.5), fT4: 54.69?pmol/L (reference values: 9.0-20.0), and fT3: >46.08?pmol/L (reference values: 2.6-5.7)]. Her thyroid uptake scan indicated GD. Echocardiography showed a high right ventricular systolic pressure: 60.16?mmHg. Lugol's iodine, propranolol, cholestyramine, and dexamethasone were initiated. Hematologic investigations uncovered no reason for the pancytopenia; therefore, carbimazole was started. Workup for hepatic impairment and pulmonary hypertension (PH) was negative. The patient became euthyroid after 3 months. Leukocyte and platelet counts and bilirubin levels normalized, and her hemoglobin and alkaline phosphatase levels and right ventricular systolic pressure (52.64?mmHg) improved. This is the first reported single case of GD with the following three rare manifestations: pancytopenia, cholestatic liver injury, and PH with right-sided heart failure. With antithyroid drugs treatment, pancytopenia should resolve with euthyroidism, but PH and liver injury may take several months to resolve.
Project description:We report a case of a 55 years old women who present a ALK associated renal cell carcinoma, with 3p deletion and measling of TFE3 expression. With CGH analysis and FISH we identify the rearrangment of ALK with TPM3
Project description:BackgroundDrug reaction with eosinophilia and systemic symptoms (DRESS) is a severe hypersensitivity drug reaction involving the skin and multiple internal organ systems. The symptoms typically present with fever and skin rash, and rapidly progress to multiple organ failures. Vancomycin is a rare drug to cause DRESS syndrome with 23 cases reported to date.Case presentationWe described a case of a 39 year-old man who was treated with vancomycin for osteomyelitis of the foot. The patient subsequently developed acute respiratory distress syndrome (ARDS) followed by rash and acute interstitial nephritis. These symptoms were improved by withdrawal of vancomycin and a pulsed corticosteroid regimen. According to the European Registry of Severe Cutaneous Adverse Reaction Criteria (RegiSCAR) (Kardaun et al, British Journal of Dermatology, 169:1071-1080, 2013), the probability of vancomycin induced DRESS syndrome was scored as "Definite". A literature search of vancomycin induced DRESS syndrome was also performed and the overall pulmonary involvement was estimated as 5%. To our knowledge, this was the first case reported with pulmonary involvement as the initial symptom.ConclusionThis is the first case to report pulmonary manifestation as the initial symptom in vancomycin induced DRESS syndrome. Prompt recognition of this entity can expedite proper treatment and hasten recovery.
Project description:Atypical chronic myeloid leukemia (aCML), BCR-ABL1 negative is a rare myelodysplastic syndrome/myeloproliferative neoplasm for which no current standard of care exists. The blood smear of patients with aCML showed prominent immature granulocytosis, and granulocytic dysplasia. We admitted a 58-year-old man with splenomegaly, hyperleukocytosis, anemia, and thrombocytopenia; then cytology, cytogenetic and molecular biology analysis of bone morrow were performed and the diagnosis of aCML was made according to 2016 World Health Organization diagnostic criteria. The patient was initially treated by chemotherapy; the patient achieved an aggravation of anemia. This motivated the change of treatment.
Project description:Granulomatosis with polyangiitis (GPA) is a systemic autoimmune disease characterized by necrotizing granulomatous vasculitis of the small- and medium-sized vessels. Classical GPA affects the upper and lower airways and kidneys. It commonly affects the nose and paranasal sinuses, middle and inner ear, and subglottic region of the larynx. Therefore, otolaryngological involvement is common in GPA and can sometimes be the initial presentation. In rare cases, otologic signs and symptoms can be the initial manifestations of this disease, including recurrent otitis media, otitis media with effusion, and sensorineural hearing loss. In the present study, we describe an atypical case of GPA of a 22-year-old female. The patient presented with severe and complicated otitis media with hearing loss and polyneuropathy (facial nerve paralysis and trigeminal nerve impairment), in addition to nasopharyngeal and parotid infiltration, in the absence of other otolaryngologic and systemic manifestations of GPA. The diagnosis of GPA can be challenging due to its wide range of clinical manifestations. Otologic signs and symptoms are rare in this disease and can sometimes be the initial manifestations. Early diagnosis and treatment are important to prevent serious and permanent complications of the disease. Otolaryngologists should have high index of suspicion to systemic diseases such as GPA.
Project description:BackgroundBenign fibrous histiocytoma (BFH) is a rare bone tumor, extremely seldom in the spine.MethodsWe present a 52-year-old patient diagnosed with a BFH in the thoracic spine treated with total en bloc spondylectomy. A review of the published literature was also conducted.ResultsNon-ossifying fibroma (NOF) and BFH are named as one tumor called NOF/BFH. A total of 20 spinal BFHs have been previously reported, mainly involving the posterior elements. We present a BFH with total vertebral involvement. Curettage and excision are the main treatment options with limited recurrence.ConclusionsThis is the first total vertebral BFH up to now. Spinal BFH occupies rather low aggressiveness. With rather limited recurrence and malignant degeneration, surgical interventions seem enough for its management.
Project description:Spontaneous intratumoral hemorrhage associated with a meningioma is an extremely rare event and has a very high rate of morbidity and mortality. We report a patient with a history of subtotal resection of a petroclival meningioma followed by gamma knife radiosurgery who presented with sudden neurological deterioration following intratumoral hemorrhage after 4 asymptomatic years. The patient underwent early resection of this atypical meningioma and evacuation of hematoma via a retrosigmoid transpetrosal approach and had rapid neurological improvement.
Project description:BackgroundAtypical chronic myeloid leukemia (BCR-ABL1 negative) is a rare myeloid neoplasm with poor prognosis and no current standard of treatment. It features both myelodysplastic and myeloproliferative characteristics with little data regarding mutations playing a role in the disease.Presentation of caseWe present a case of a 55-year-old female complaining of fever, cough, general weakness and night sweats. Examinations showed leukocytosis with a left shift, thrombocytopenia, hypercellular bone marrow with marked granulocytic hyperplasia and a negative BCR-ABL. After ruling out myelodysplastic and other myeloproliferative diseases the patient was finally diagnosed as aCML according to the WHO criteria with mutations in the TET2 gene, the NRAS gene and in the KRAS gene. The patient was started on Hydroxyurea for a duration of 9 months with an excellent initial response leading to normalization of her platelets and WBCs. However, in the last month she stopped responding to therapy and her state of health started declining once again.ConclusionAtypical chronic myeloid leukemia (BCR-ABL1 negative with presence of TET2 gene mutation) is an unusual finding in myeloid neoplasms, have unknown prognosis and no current standard of treatment. It features both myelodysplastic and myeloproliferative characteristics with little data regarding mutations playing a role in the disease.
Project description:IntroductionChromophobe renal cell carcinoma, a distinct subtype of renal cell carcinoma (RCC) with characteristic light microscopic, histochemical, and ultrastructural features, typically has a favorable clinical course.Presentation of caseA 45-year-old femele presented with abdominal pain. A physical examination found a palpable mass in the left upper quadrant of the abdomen. A CT scan of the abdomen showed a heterogeneously enhancing mass, with necrosis and calcifications contents betwen the liver and the right kidney. she underwent surgical resection. Partial nephrectomy was performed. Pathological diagnosis was Chromophobe renal cell carcinoma.Discussion and conclusionChromophobe RCC is a rare variety of kidney neoplasm that has recently been better characterized from a molecular and genetic perspective. Overall, it is considered to have a better prognosis, and is associated with earlier stage tumors and longer overall survival compared with clear cell RCC.