SAGE Open Medical Case Reports最新文献

Minocycline-induced pigmentation is a rare dermatological condition that primarily affects the skin and thyroid gland, oral mucosa, nails, teeth, bones, and sclera leading to grayish-blue pigmentation in these areas. Early identification, discontinuation of the drug, and laser treatment are crucial in managing this condition. We reported a case involving a 72-year-old Chinese woman who developed diffuse blue-brown pigmentation after 1 year of minocycline treatment for pemphigus vulgaris. Histological examination revealed multiple pigment-laden macrophages and free pigment in the dermis at the skin lesions. According to our review of the literatures, the generalized skin involvement made our case very rare in comparison with those previously reported of Chinese patients.

In patients with a femoropopliteal chronic total occlusion (CTO) after femoro-femoral (FF) bypass surgery, it is often difficult to perform endovascular therapy because of access site problems. We have treated two patients with CTO of the superficial femoral artery (SFA) using an FF crossover bypass graft. The two cases were a man with intermittent claudication and acute limb ischemia, respectively. Enhanced computed tomography showed occlusion of the left SFA and the FF bypass previously performed was patent in both cases. We punctured the right common femoral artery and a guiding sheath was inserted to the left common femoral artery. A guidewire successfully passed through the intraplaque lesion by intravascular ultrasound-guided wiring in both cases. Revascularization was successfully achieved using drug-coated balloons and using drug-eluting stents, respectively. An FF crossover bypass graft may be a good access route for complex femoropopliteal cases, such as CTO lesions.

Lacrimal sac and nasolacrimal duct tumors are extremely rare, and most of them are malignant tumors, which are often misdiagnosed as chronic dacryocystitis. We herein report a rare case of a 29-year-old female, presented with a history of watering in the right eye associated with a rapidly progressive mass for 4 months near the medial canthus. Further clinical examination revealed firm, non-tender mass occupying the lacrimal sac fossa extending above the medial canthus. The systemic examination was unremarkable, with a palpable right submandibular lymph node palpable. Contrast-enhanced computerized tomography (CECT) orbit revealed a well-defined mass at the medial canthus extending into the osseous nasolacrimal canal. An excision biopsy was performed, and histopathology revealed a poorly differentiated sebaceous carcinoma of the lacrimal sac. The oncologist advised CECT chest, face, and neck post-surgery, which revealed malignant neoplastic changes at the right lacrimal sac region and lacrimal duct with metastasis at right nodes I b, II, V, and left nodes I b and II. Five-month follow-up showed no signs of recurrence.

Congenital hiatal hernia is a rare congenital defect and often occurs at a sporadic basis, but familial cases have also been reported. Here, we report on a 3-year-old male patient of Middle-Eastern descent, diagnosed at 5 months of age patient presenting with a congenital hiatal hernia, vermis hypoplasia manifested by axial hypotonia and horizontal nystagmus, preauricular tag, and dysmorphic features with negative genetic mutations, not fitting any reported association or syndrome, suggesting the potential existence of a novel disease entity and highlighting the necessity for further exploration into rare genetic conditions for comprehensive patient care and syndrome characterization.

Nephrotic syndrome (NS) in pregnancy has been associated with poor fetal outcomes. Focal segmental glomerulosclerosis (FSGS) is one of the common causes of NS and can be primary or secondary. However, there are few case reports of FSGS diagnosed in the peripartum period and the approaches to management. We report the case of a 27-year-old gravida 2 para 1 Caucasian woman diagnosed with NS at 22 weeks of gestation. Her serum creatinine was 46 µmol/L (0.48 mg/dL), serum albumin 14 g/L (1.4 g/dL) and 24-h urinary protein 9.79 g/day with no haematuria. Serology was negative for lupus, phospholipase A2 receptor antibody, hepatitis and HIV. Paraprotein screening was also negative. The patient declined a renal biopsy. Differential diagnoses at this stage included minimal change disease and FSGS. Six weeks after commencing empirical treatment with high-dose oral prednisolone, there was no response; hence, tacrolimus was initiated. Due to concern for maternal and fetal well-being, the decision was made to deliver via Caesarean section at 31 weeks, given worsening proteinuria (23.18 g/24 h). A live male infant was delivered weighing 1625 g. Renal biopsy at 4 weeks post-partum was consistent with primary FSGS. This case highlights the strategies we utilised to manage a gravid patient presenting with nephrotic syndrome at 22 weeks gestation, where diagnosis could only be confirmed on renal biopsy in the postpartum period.

Idiopathic inflammatory myopathies are characterized by chronic inflammation of skeletal muscle. The main subtypes of idiopathic inflammatory myopathies include dermatomyositis, polymyositis, and necrotizing autoimmune myopathies. Dermatomyositis is characterized by symmetrical proximal muscle weakness, distinctive skin lesions, and systemic manifestations. Dermatomyositis commonly presents with elevated creatinine kinase levels. However, we report a case of a 19-year-old female presenting with dermatomyositis positive for anti-small ubiquitin-like modifier 1 and melanoma differentiation-associated gene 5 antibodies presenting with classic signs and symptoms like progressive proximal muscle weakness, dysphagia, hyperpigmented rash, and Gottron's papules but had severe inflammatory myopathy on muscle biopsy and normal creatinine kinase levels. This case emphasizes an atypical presentation of dermatomyositis where she did not have amyopathic dermatomyositis despite having a positive anti-melanoma differentiation-associated gene 5 antibody and normal creatinine kinase. This underscores the importance of history and physical examination despite contradictory laboratory results.

We report the case of a 50-year-old female with gastric carcinoma. The tumor was positive for epithelial and other immunological markers; however, SMARCA4 was completely inactivated. The histological and immunophenotypic findings were consistent with a diagnosis of SMARCA4-DTS. Next-generation sequencing identified a frameshift mutation in SMARCA4. The pathological diagnosis was SMARCA4-deficient gastric carcinoma. The tumor exhibits a poor response to conventional chemotherapy and has a poor prognosis; therefore, correct diagnosis is necessary. Moreover, new therapies such as EZH2 inhibitors and etoposide should be considered in cases where conventional chemotherapy is ineffective.

Psoriasis is a chronic, inflammatory skin disease that affects over 60 million adults and children globally. It is classically characterized by pink plaques covered with silver scales on the extensor surfaces, trunk, or scalp. In this report, we describe the case of a woman in her late 60s with psoriasis presenting as a painful plaque on her left breast. This case highlights the importance of considering psoriasis as a differential diagnosis in patients with unilateral breast plaques, even in the absence of typical psoriasis scaling elsewhere on the body.

This is a case of probable pernicious anemia in the setting of autoimmune hepatitis. A 55-year-old male patient presented to the Emergency Room at Dr. Ruth K.M. Pfau Civil Hospital, Karachi with complaints of diarrhea and fever and was subsequently transferred to the medicine ward. The patient also had signs of unexplained anemia. We performed laboratory tests and were able to rule out the common causes of liver pathology, including viral hepatitis. For blood, the values showed decreased hemoglobin levels and an elevated Mean corpuscular hemoglobin (MCH) and mean corpuscular volume (MCV) (114 fL), indicating macrocytosis. Finally, we were able to conclude autoimmune pathology after the results of antibody testing demonstrated positive lab values for anti-smooth muscle antibodies, antinuclear antibodies, and anti-gastric parietal cell antibodies. The patient had developed pernicious anemia in the setting of autoimmune hepatitis, which is an extremely rare case and documented instances are scarce in the available literature regarding such cases.

Candida auris (C. auris), a globally emerging pathogen, has posed a significant threat to hospitalized individuals during the COVID-19 in Vietnam. This case series reported (1) common patterns in five patients with non-multidrug-resistant C. auris infections (multiple comorbidities, severe-to-critical illness, use of broad-spectrum antibiotics, or history of surgery/invasive procedures) and (2) high rate of C. auris-associated mortality in this medical setting (four deaths out of five cases). Further studies are needed to (1) identify risk factors for C. auris infections and mortality and (2) investigate the effects of screening and preventive measures for C. auris, especially in low-resource settings.