Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
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:BackgroundAdult-onset colonic intussusception is a rarely encountered condition that leads to large intestinal obstruction with time. Patients often present with a variety of symptoms that are non-specific making it challenging to arrive at a definitive diagnosis. This is worrying as diagnostic delay could lead to a significant increase in morbidity and mortality. We wish to present and describe a case of an atypical endoscopic finding of colocolic intussusception secondary to ascending colon cancer.Case descriptionSixty-seven-year-old lady was referred for 1 month's duration of passing melenic stools with mucus followed by a week's complain of hematochezia. Clinical examination and other relevant blood results were unremarkable except for iron deficiency anemia. Initial colonoscopy revealed a large mass within the splenic flexure with inconclusive biopsies. A more detailed colonoscopy repeated the following day revealed a massive, black-to-yellowish lesion within the splenic flexure with no viable mucosa seen. Colonic bezoar was initially suspected, however various endoscopic retrieval methods proved futile. Switching to a slimmer diagnostic gastroscope, the colon was carefully negotiated until a large ulcer was found within the ascending colon, adjacent to the mass' origin. An emergency CT abdomen and subsequently extended right hemicolectomy performed revealed a colocolic intussusception with sealed perforation secondary to an ascending colonic mass acting as an intussusceptum. Histopathology evaluation confirmed an ascending colon adenocarcinoma (pT2N0M0) amidst a background of extensive ischemic changes.ConclusionsEndoscopic descriptions of colonic intussusception are unusual given their rarity. Furthermore, these lesions can mimic a colonic bezoar as a result of fecal accretion and this can ultimately lead to false diagnostic and therapeutic decisions. In such instances, clarification with a CT scan before management decision can potentially avert unnecessary endoscopic intervention and complications.
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: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: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: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.