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Radiological assessment of extremity bone involvement in Erdheim-Chester disease: a systematic review of case reports.
Skeletal Radiol
December 2024
Department of Radiology, Division of Musculoskeletal Imaging and Intervention, University of Washington, Seattle, WA, USA.
Objective: To describe the clinical presentations and radiological manifestations of Erdheim-Chester disease (ECD) in the extremities, with particular emphasis on radiologic findings, as radiographs are typically the initial imaging modality used in clinical practice.
Methods: Following the PRISMA guidelines, a comprehensive systematic search was performed across Scopus, PubMed, Web of Science, and Embase databases, covering case reports from inception until August 1, 2024. Included were studies with pathologically confirmed ECD (CD68 positive and CD1a negative) that were evaluated with at least one imaging modality and provided detailed descriptions of radiological findings.
Deep juvenile xanthogranuloma invading the left tensor fasciae latae muscle: a case report and a literature review.
J Clin Exp Hematop
December 2024
Division of Pediatrics and Perinatology, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine, Yonago, Japan.
Article Synopsis
- Juvenile xanthogranuloma (JXG) is a rare benign condition primarily affecting neonates and young children, often presenting as skin lesions, but intramuscular JXG is much less common, accounting for only 0.6% of cases.
- A case involving a 5-month-old girl showed a slow-growing lump in her left thigh, which was diagnosed as deep JXG after imaging, biopsy, and surgical resection.
- Histological findings revealed characteristics typical of JXG, and despite initial concerns about tumor margins, the patient has shown no signs of recurrence over 48 months post-surgery, highlighting the importance of proper diagnosis and monitoring.
Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear.
Pediatr Allergy Immunol
November 2024
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Article Synopsis
- Primary immunodeficiency diseases with partial albinism, such as Chediak Higashi Syndrome (CHS) and Griscelli Syndrome type 2 (GS2), are autosomal recessive disorders characterized by immune deficiencies and abnormal pigmentation.
- The study evaluated 25 patients over the past decade, using genetic analyses and examinations of leukocyte granules and hair shafts to identify these conditions, along with control groups of patients with albinism and healthy individuals.
- The findings indicated specific genetic variants associated with CHS and HPS2, highlighting the importance of timely hematopoietic stem cell transplantation and genetic testing for accurate diagnosis and management of these syndromes.
Multisystem ALK-Positive Histiocytosis With DCTN1::ALK Fusion in an Adult, Responsive to Alectinib: Case Report and Literature Review.
J Cutan Pathol
January 2025
Department of Dermatology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Anaplastic lymphoma kinase (ALK)-positive histiocytosis has emerged as a clinically relevant diagnosis featuring a wide span of clinical presentations, which are unified by the presence of ALK-positive histiocytes on histopathology and molecular drivers involving the ALK kinase gene. This report presents an adult case of multisystem ALK-positive histiocytosis with xanthogranuloma-like features on histopathology that was responsive to ALK inhibition, and includes a review of ALK-positive histiocytoses with cutaneous involvement reported in the literature. A 56-year-old male developed a widespread eruption of red-brown papules on the face, trunk, and upper extremities.
View Article and Find Full Text PDFRecurrent CLTC::SYK fusions and CSF1R mutations in juvenile xanthogranuloma of soft tissue.
Blood
December 2024
Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Article Synopsis
- Juvenile xanthogranuloma (JXG) is a type of skin tumor mostly found in children, but some cases occur in other parts of the body, and their genetic causes are not fully understood.* -
- A study analyzed 16 children and 5 adults with extracutaneous JXG using advanced sequencing, finding that numerous genetic alterations, especially related to kinase fusions, were present in most children.* -
- The findings indicate that while surgery is common for treatment, some cases can regress on their own, and specific genetic alterations could help inform better treatment options in the future.*
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