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VEXAS Syndrome: Histiocytoid Cells With Feathery Cytoplasm as a Clue to the Diagnosis.
J Cutan Pathol
February 2025
Department of Dermatology, Yale University, New Haven, Connecticut, USA.
Article Synopsis
- VEXAS syndrome is characterized by an abnormal immune response involving neutrophils but recent studies show that other cell types can also be present in the infiltrates.
- The report discusses three cases of VEXAS syndrome, highlighting a total of seven biopsies, which revealed a consistent presence of histiocytoid cells with a distinctive feathery cytoplasm.
- These histiocytoid cells may serve as an important diagnostic indicator for identifying VEXAS syndrome.
Extra-Axial Poorly Differentiated Chordoma Initially Misdiagnosed as Epithelioid Sarcoma.
Int J Surg Pathol
November 2024
Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
Article Synopsis
- Poorly differentiated chordoma is a rare and aggressive type of tumor usually found in young patients, mainly at the skull base and cervical spine.
- A case study of a 60-year-old patient initially misdiagnosed with osteoarthritis revealed complex tumor characteristics that led to reconsideration of its diagnosis.
- The importance of accurate immunohistochemical testing, specifically for brachyury, is emphasized for correctly diagnosing this uncommon tumor and for understanding its unique molecular profile, which could aid in future analyses.
Case report: severe hypertrophic cardiomyopathy in a female neonate caused by variant in .
Eur Heart J Case Rep
August 2024
Children's Institute Department of Heart, Vascular, and Thoracic, Cleveland Clinic, Cleveland, OH, USA.
Background: Hypertrophic cardiomyopathy in the neonate has a diverse genetic background, and non-sarcomeric variants may not be identified on commercial genetic testing panels. NDUFB11 is an X-linked mitochondrial Complex I protein and is known to cause histiocytoid cardiomyopathy but has not been described in female infants with hypertrophic cardiomyopathy. We present this first reported case of obstructive hypertrophic cardiomyopathy in a female neonate secondary to a pathogenic variant in NDUFB11.
View Article and Find Full Text PDFMyxoid variant of plexiform fibrohistiocytic tumor: case report.
AME Case Rep
May 2024
Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Background: Plexiform fibrohistiocytic tumor (PFH) is a rarely metastasizing slowly growing neoplasm usually affecting children and young adults. The tumor usually has a dermal-subcutaneous location, is poorly circumscribed, and is comprised of a plexiform or multinodular proliferation of a variable admixture of fibroblasts and histiocytoid cells with a distinctive biphasic morphology. Myxoid change in PFH is extremely rare with only five cases of myxoid variant of PFH reported to date in the English literature.
View Article and Find Full Text PDFMyelodysplasia cutis and VEXAS syndrome initially diagnosed as histiocytoid Sweet syndrome: A diagnostic pitfall.
J Cutan Pathol
November 2024
Department of Dermatology, Mayo Clinic, Rochester, Minnesota, USA.
Histiocytoid Sweet syndrome (H-SS) is a histopathological variant of Sweet syndrome (SS) defined by cutaneous infiltration of immature myeloid cells morphologically resembling histiocytes. The association of H-SS with underlying malignancy, particularly myelodysplastic syndromes, is well-established. Myelodysplasia cutis (MDS-cutis) has been proposed to describe cases historically diagnosed as H-SS but characterized by shared clonality of the myeloid infiltrate in skin and bone marrow.
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