26/fev/2025
Azacitidine-induced bullous pemphigoid-like localized toxic reaction
DOI: 10.31744/einstein_journal/2025RC0699
ABSTRACT Azacitidine is a hypomethylating agent recommended for the treatment of patients with high-risk myelodysplastic syndromes. Here, we report the case of a patient with myelodysplastic syndrome who was not eligible for allogeneic stem cell transplantation (allo-SCT) and presented with a rare and previously unreported cutaneous side effect after the use of subcutaneous azacitidine. We propose that changing the route of azacitidine administration from subcutaneous to intravenous could potentially decrease the occurrence of bullous pemphigoid-like localized toxic reactions in some […]
Palavras-chave: Azacitidine; Síndromes mielodisplásicas; Pemphigoid, bullous; Skin diseases
26/fev/2025
Intravenous immunoglobulin therapy in erythromelalgia management: a case report
DOI: 10.31744/einstein_journal/2025RC1236
ABSTRACT A 49-year-old woman presented with a 16-year history of burning pain, warmth, redness, and edema in both toes, feet, legs and calves. Despite extensive medical testing, including genetic analysis, no specific cause was identified. Initial treatments failed to improve symptoms, leading to impaired quality of life and mental health. Eventually, a six-month course of intravenous immunoglobulin therapy provided complete relief, allowing the patient to resume normal activities. Erythromelalgia is a rare neurovascular condition characterized by pain, warmth, and erythema […]
Palavras-chave: Doenças autoimunes; Erythromelalgia; Imunoglobulinas intravenosas; NAV17 Voltage-gated sodium channel; Small fiber neuropathy
17/fev/2025
Severe dengue, aneurysmal sub-arachnoid hemorrhage, and hemophagocytic lymphohistiocytosis: a rare case combination
DOI: 10.31744/einstein_journal/2025RC1209
ABSTRACT Dengue, a vector-borne acute febrile illness caused by members of the Flavivirus genus, has dramatically increased its occurrence worldwide. Neurological complications of dengue range from 2.63 to 40%, and subarachnoid hemorrhage is a rare, but significant manifestation. Hemophagocytic lymphohistiocytosis is a life-threatening hyperinflammatory syndrome, sometimes secondary to infections such as dengue. This report presents a rare case of severe dengue with subarachnoid hemorrhage and hemophagocytic lymphohistiocytosis. A 19-year-old male presented with a 7-day history of fever and myalgia, followed […]
Palavras-chave: Dengue; Fever; Haemorrhage; Lymphohistiocytosis, hemophagocytic; Severe dengue; Subarachnoid hemorrhage
10/fev/2025
Cofactor-enhanced food allergy to presumed soy storage proteins in a pediatric patient
DOI: 10.31744/einstein_journal/2025RC1044
ABSTRACT Food allergies are the leading cause of anaphylaxis in children. Cofactors, such as exercise and non-steroidal anti-inflammatory drugs, may influence the occurrence and severity of allergic reactions to food. However, despite their relevance, the underlying mechanisms of cofactor-enhanced food allergies remain poorly understood. We report the case of a 12-year-old girl with mitochondrial DNA depletion syndrome who was referred to an allergy appointment due to suspected ibuprofen hypersensitivity. Detailed anamnesis, laboratory assessment, and negative drug challenge results excluded this […]
Palavras-chave: Anafilaxia; Anti-inflammatory agents, non-steroidal; Child; Cofactor; Food allergy; Hipersensibilidade alimentar; Ibuprofen; Soy proteins
10/fev/2025
Kabuki and CHARGE syndromes: overlapping symptoms and diagnostic challenges
DOI: 10.31744/einstein_journal/2025RC1142
ABSTRACT Kabuki syndrome is a rare congenital malformation with typical facial features, skeletal anomalies, delayed neuropsychomotor development and growth, and cardiac, genitourinary, gastrointestinal, endocrine, and dental anomalies. One of the main differential diagnoses is CHARGE syndrome, standing for and characterized by Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Restricted intellectual development, Genitourinary malformations, and Ear anomalies. Because these syndromes have similar characteristics, distinguishing them may be challenging. A 24-year-old male patient admitted with reduced renal function […]
Palavras-chave: CHARGE syndrome; Choanal atresia; Diagnóstico diferencial; Testes genéticos; Hypoparathyroidism; Kabuki syndrome; KMT2D
26/nov/2024
Beyond the rare: a case of pseudomyogenic hemangioendothelioma treated sequentially with everolimus, denosumab, and pazopanib
einstein (São Paulo). 26/nov/2024;22:eRC1107.
Ver Artigo26/nov/2024
Beyond the rare: a case of pseudomyogenic hemangioendothelioma treated sequentially with everolimus, denosumab, and pazopanib
DOI: 10.31744/einstein_journal/2024RC1107
ABSTRACT Pseudomyogenic hemangioendothelioma is an ultra-rare vascular sarcoma that most commonly affects young adults, with a male predominance. It is diagnosed using a combination of imaging studies, histopathological examinations, and immunohistochemical staining. Surgical excision is the mainstay of treatment for pseudomyogenic hemangioendothelioma, with the goal of achieving a wide local excision and reducing the risk of recurrence. The role of systemic therapies is not well established because of the rarity of pseudomyogenic hemangioendothelioma, uncertainty regarding its response to currently approved […]
Palavras-chave: Denosumab; Everolimus; Hemangioendothelioma; Hemangioendothelioma, epithelioid; Neoplasms, vascular tissue; Pazopanib
26/nov/2024
Migration of metallic acupuncture threads from the breast to the right ventricle: a case report
einstein (São Paulo). 26/nov/2024;22:eRC1280.
Ver Artigo26/nov/2024
Migration of metallic acupuncture threads from the breast to the right ventricle: a case report
DOI: 10.31744/einstein_journal/2024RC1280
ABSTRACT This case report discusses the migration of a foreign body from the breast to the mediastinum, which is rarely reported, and highlights complications associated with Okibari acupuncture. This technique involves the insertion of metal fragments into the skin. A 53-year-old woman underwent mammography showing acupuncture-related metallic fragments in the breast. Cardiac evaluation revealed the presence of metallic fragments in the right ventricle and myocardium. Despite the fragments‘ location in the mediastinum, the patient remained asymptomatic, leading us to take […]
Palavras-chave: Acupuncture techniques; Bone wires; Mama; Corpos estranhos; Foreign-body migration; Heart ventricles; Mediastino; Migration
22/nov/2024
Epiphyseal displacement of the distal humerus in a neonate: a case report
DOI: 10.31744/einstein_journal/2024RC0868
ABSTRACT Epiphyseal displacement of the distal humerus is rare and difficult to diagnose. In addition, the literature on the prognosis and treatment is limited. Here, we present a case of distal humeral physeal separation with significant displacement in a neonate. A favorable outcome was obtained following closed reduction and percutaneous fixation with Kirschner wires assisted by arthrography. This report adds valuable information on this subject to the existing literature.
Palavras-chave: Birth injuries; Epiphysis; Humerus; Troca materno-fetal; Joint dislocations
22/nov/2024
Percutaneous radiofrequency ablation of an actively bleeding renal angiomyolipoma
DOI: 10.31744/einstein_journal/2024RC1008
ABSTRACT We report a case of computed tomography-guided percutaneous radiofrequency ablation of a bleeding renal angiomyolipoma. Radiofrequency ablation was performed as an alternative to partial nephrectomy and super-selective renal artery embolization for ruptured renal angiomyolipoma with slow persistent bleeding in a patient with elevated serum creatinine levels and other comorbidities. Computed tomography-guided radiofrequency ablation successfully stopped the active hemorrhage and did not affect long-term renal function during the 3-year follow period. No complications were associated with the procedure. Radiofrequency ablation […]
Palavras-chave: Angiomyolipoma; Catheter ablation; Hemorragia; Kidney neoplasms; Radiofrequency ablation; X-ray computed tomography
22/nov/2024
Nephropulmonary fistula with coralliform stone migration into the thorax: a case report
DOI: 10.31744/einstein_journal/2024RC1220
ABSTRACT A nephropulmonary fistula is a rare complication of a non-functioning kidney, associated with a history of infection. Medical literature describes it as an adult disease in the pre-antibiotic era, and nowadays, is a rare complication. This study reports the case of a patient with nephrolithiasis who developed a nephropulmonary fistula resulting in the migration of renal coralliform stones to the lung parenchyma. The treatment included posterior mini-thoracotomy with partial costectomy of the 9th right costal arch, pneumonotomy for the […]
Palavras-chave: Coralliform stone; Hemotórax; Fistula; Rim; Lung abscess; Migration; Nefrolitíase; Nephropulmonary fistula