Massive Pericardial Effusion in a 14-Year-Old Girl with Mild Fatigue and Neck Pain

Pericardial effusion is rare in pediatric patients and is characterized by a variable clinical presentation. Mild symptoms may be present despite severe effusion. We here report the case of a patient with massive pericardial effusion with mild clinical presentation. Our case points out the need not to exclude this diagnosis in patients with mild general impairment. This clinical suspicion can be lifesaving.

Isolated pilomatricoma of the arm: A case and a review of the literature

Pilomatricoma is a relatively rare tumor of the skin derived from primitive basal cells of the epidermis that differentiate into hair matrix cells. These tumors appear as solitary, firm nodules, showing a normal to pearl white epidermis. Its most frequent locations are the head and neck, while involvement of the upper extremities is relatively uncommon. Herein, we present the case of a seventeen-year-old female with pilomatricoma of the arm and review the literature regarding pilomatricomas of the upper extremities. The diagnosis of pilomatricoma is confirmed histologically and its treatment is based on surgical excision. Because of the low incidence and variable clinical presentation, pilomatricoma is a tumor not commonly suspected preoperatively. This presentation may help clinicians to diagnose this entity more effectively and decrease the rate of misdiagnosis.

Rosai-Dorfman Disease of Bone and Soft Tissue

Context.— Rosai-Dorfman disease is a rare histiocytic proliferative disorder of unknown pathogenesis that may be diagnostically difficult in extranodal sites. It is commonly an unsuspected diagnosis when arising in bone and soft tissue, especially when it presents without associated lymphadenopathy. Its variable clinical presentation and nonspecific imaging findings make the diagnosis quite challenging, particularly in small biopsies. The problem is compounded by its less-characteristic histomorphologic features in comparison with nodal disease. Awareness of the potential diagnostic pitfalls in Rosai-Dorfman disease of bone and soft tissue should raise the degree of diagnostic accuracy. Objective.— To review the clinical manifestations, imaging characteristics, and histomorphologic features of Rosai-Dorfman disease of bone and soft tissue along with a brief discussion of its differential diagnosis, pathogenesis, and current management. Data Sources.— Thorough review of the literature with focus on clinical manifestations, imaging findings, key histomorphologic features, pathogenesis, and treatment. Conclusions.— The diagnosis of Rosai-Dorfman disease of bone and soft tissue may be quite challenging because of its variable clinical presentation and nonspecific imaging findings. It may be asymptomatic without systemic manifestations or associated lymphadenopathy. The definitive diagnosis relies on histopathologic identification of the characteristic S-100–positive histiocytes demonstrating emperipolesis. Bone and soft tissue lesions tend to have lower numbers of characteristic histiocytes and less conspicuous emperipolesis and often demonstrate areas of fibrosis or storiform spindle cell areas resembling fibrohistiocytic lesions. Awareness of these unusual features is necessary in order to consider Rosai-Dorfman disease in the differential diagnosis when confronting these rare and often misleading lesions.

Treatment-induced sarcoidosis in a patient with metastatic clear cell ovarian cancer

Sarcoidosis is a granulomatous disease that commonly presents with lung or lymphatic system manifestations. Diagnosis is often delayed due to variable clinical presentation. This is a case of a patient with metastatic clear cell ovarian cancer who developed disease reoccurence after definitive treatment with surgery and adjuvant chemotherapy. She was treated with multiple lines of therapy, including investigational agents. During this time, she developed mediastinal lymphadenopathy and hypercalcaemia. Due to suspicion that her presentation was not a manifestation of her malignancy, she underwent two lymph node biopsies revealing granulomatous disease. She was initiated on prednisone for management of sarcoidosis, which led to radiologic, laboratory and symptomatic improvement. Although the precipitating factor for this patient’s sarcoidosis cannot be definitively determined, nivolumab is a possible culprit. This case highlights the importance of a broad differential diagnosis when a patient undergoing antineoplastic treatment develops mediastinal lymphadenopathy or hypercalcaemia.

Hemophagocytic lymphohistiocytosis: a rare and life-threatening diagnosis

Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening syndrome of excessive activation of immune system. It frequently affects infants from birth to 18 months of age, but is also observed in children and adults of all ages. HLH can occur as a familial or sporadic disorder, and it is triggered by a variety of events, Infection being the most common trigger both in familial and in sporadic cases. Prompt treatment is very critical in cases of HLH, but the greatest barrier is often delay in diagnosis due to the rarity of this syndrome, variable clinical presentation, and lack of specificity of the clinical and laboratory findings. The key clinical features of HLH are high persistent fever, hepatosplenomegaly, blood cytopenia, elevated aminotransferase and ferritin levels, and coagulopathy. A diagnosis of HLH is mostly under-recognized, and is associated with high mortality, especially in adults; thus, prompt diagnosis and treatment are essential. We here present a rare case of HLH in an adult which was non-familial and infection being the trigger causing secondary hemophagocytic lymphohistiocytosis.

Hormonal Contraception and Massive Pulmonary Embolism in a COVID-19 Ambulatory Patient: A Case Report

Coronavirus 19 disease (COVID-19) presents a highly variable clinical presentation and course, ranging from asymptomatic patients to rapidly progressive, fatal pneumonia. The known heterogeneous outcomes can affect both previously healthy patients and those with significant comorbidities, who develop clinical courses with possibly more multisystemic compromise. Likewise, the development of thrombotic phenomena during the acute course of the disease is associated with complications that worsen patient prognosis. We present a case report of a 45-year-old multiparous patient with a history of overweight and chronic use of oral hormonal contraception with low doses of levonorgestrel and estradiol as the only risk factors favoring the development of thrombotic events. During her outpatient COVID-19 clinical course, she developed massive pulmonary thromboembolism resulting in secondary obstructive shock, which required pharmacological thrombolysis. At discharge, hormonal contraception was considered contraindicated, and the patient was released from our institution with continued oral anticoagulant therapy. COVID-19 infection, contraceptive hormone therapy, and overweight are known risk factors for the development of thromboembolic events. The impact of their concomitance has not been studied to date. From our experience, we discuss the impact these risk factors have when present together and invite others to report similar cases.

Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature

Introduction: Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) is a rare condition of renal phosphate wasting due to SLC34A3 mutations [1]. Patients exhibit low serum phosphorus, high 1,25-dihydroxyvitamin D and inappropriately high urine phosphate and calcium. However, symptoms vary and little is known about specific phenotype-genotype correlations. Methods: We report three HHRH cases in unrelated 12-year-old, 9-year-old and 14-year-old patients and perform a systematic literature review. Results: All three patients exhibited labs typical of HHRH. Yet, their presentations differed and 2 novel SLC34A3 variants were identified. As found in the literature review, bone symptoms are most common (50%), followed by renal symptoms (17%), combined bone and renal symptoms (18%) and asymptomatic (9%). Conclusion: These three cases highlight the variability of presenting signs and symptoms among individuals with HHRH. An accurate diagnosis is critical, as treatment differs from other disorders of phosphate wasting, urinary stones, and mineralization defects.

Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing

Hereditary spherocytosis (HS), the most commonly inherited hemolytic anemia in northern Europeans, comprises a group of diseases whose heterogeneous genetic basis results in a variable clinical presentation. High-throughput genome sequencing methods have made a leading contribution to the recent progress in research on and diagnostics of inherited diseases and inspired us to apply whole exome sequencing (WES) to identify potential mutations in HS. The data presented here reveal a novel mutation probably responsible for HS in a single Polish family. Patients with clinical evidence of HS (clinical symptoms, hematological data, and EMA test) were enrolled in the study. The examination of the resulting WES data showed a number of polymorphisms in 71 genes associated with known erythrocyte pathologies (including membranopathies, enzymopathies, and hemoglobinopathies). Only a single SPTB gene variant indicated the possible molecular mechanism of the disease in the studied family. The new missense mutation p.C183Y was identified using WES in the SPTB gene, which is most likely the cause of clinical symptoms typical of hereditary spherocytosis (membranopathy) due to structural and functional impairments of human β-spectrin. This mutation allows for a better understanding of the molecular mechanism(s) of one of the membranopathies, hereditary spherocytosis.

Bullous Pemphigoid and Other Pemphigoid Dermatoses

The pemphigoid family of dermatoses is characterized by autoimmune subepidermal blistering. The classic paradigm for pemphigoid, and the most common member, is bullous pemphigoid. Its variable clinical presentation, with or without frank bullae, is linked by significant pruritus afflicting the elderly. Mucous membrane pemphigoid is an umbrella term for a group of subepidermal blistering dermatoses that favor the mucosal membranes and can scar. Epidermolysis bullosa acquisita is a chronic blistering disorder characterized by skin fragility, sensitivity to trauma, and its treatment-refractory nature. Clinicians that encounter these pemphigoid disorders may benefit from an overview of their clinical presentation, diagnostic work-up, and therapeutic management, with an emphasis on the most frequently encountered pemphigoid disease, bullous pemphigoid.