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Metastatic multicentric epithelioid angiosarcoma of bone. A case report with pitfalls. Tumor seeding after percutaneous biopsy and hypercalcemia.
J Surg Case Rep
January 2025
Orthopaedic Oncologist Unit, La Paz University Hospital, P° Castellana 261, 28046 Madrid, Spain.
Angiosarcomas are a type of malignant tumor of vascular origin. They represent <1% of all primary bone tumors. The multicentric or metastatic does not differ in its high aggressiveness and poor prognosis.
View Article and Find Full Text PDFDelayed diagnosis of multiple myeloma in a young patient: a call for vigilance in diagnosis.
BMJ Case Rep
January 2025
Internal Medicine, The George Washington University, Washington, DC, USA.
Multiple myeloma is a rare haematologic malignancy, representing about 1-2% of all cancers and 17% of haematologic malignancies in the US, predominantly affecting older adults and more common in African Americans (AAs) and men. Light-chain multiple myeloma, a subtype accounting for 15% of multiple myeloma cases, often has a more aggressive clinical course. This case report discusses a rare case of an AA female in her early 30s, diagnosed with light-chain multiple myeloma following a pathological rib fracture.
View Article and Find Full Text PDFHypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report.
BMC Med Genomics
January 2025
Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.
Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. This disorder is characterized by impaired glycogenolysis and gluconeogenesis, resulting in clinical and metabolic manifestations. We report a three-month-old Moroccan female patient presenting with doll-like facies, hepatomegaly, dysmorphic features, and developmental delays.
View Article and Find Full Text PDFTwo-Step Surgical Strategy for Parathyroid Carcinoma: A Single-Center Experience.
Medicina (Kaunas)
December 2024
Thoracic Surgery Department, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy.
Parathyroid carcinoma (PC) is a rare endocrine malignancy that poses significant diagnostic challenges due to its resemblance to benign conditions. This case series describes the clinical presentation, diagnosis, management, and short-term outcomes of four male patients (aged 54, 65, 73, and 74 years) with primary hyperparathyroidism and hypercalcemia. The preoperative diagnosis of PC remains challenging; suspicion should arise in cases of severe hypercalcemia, elevated parathyroid hormone levels, and the presence of a mass on imaging or during surgery.
View Article and Find Full Text PDF[Review of Multiple Endocrine Neoplasia Type 1 Based on a Clinical Case].
Rev Med Chil
June 2024
Departamento de endocrinología, Hospital Clínico San Borja Arriarán, Santiago, Chile.
Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disease with an estimated prevalence of 2 per 100,000. This disease is caused by a mutation in the tumor suppressor gene MEN1, which is located on chromosome 11 and codifies the menin protein. It is characterized by a predisposition of parathyroids, enteropancreatic, and anterior pituitary tumors, affecting the quality of life and lifespan of those who have the disease.
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