Lipofibromatosis is a rare, benign fibrofatty tumor of childhood. Since the tumor was first characterized in 2000, only a few additional cases have been reported. The classic presentation of lipofibromatosis is a slow-growing mass arising in a distal extremity, with boys more commonly affected than girls. We report a 16-month-old girl who presented with a lipofibromatosis in her left scapular region that increased 30% in size during a 6-week period. Although previous case reports of lipofibromatosis have emphasized immunohistological findings, this paper focuses on imaging findings and discusses the utility of imaging in the differential diagnosis of pediatric soft-tissue tumors.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00247-010-1850-0 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease.
Hum Genome Var
November 2024
Center for Promoting Treatment of Intractable Disease, ISEIKAI International General Hospital, Osaka, Japan.
Genetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.
View Article and Find Full Text PDFA novel nonsense RPS26 mutation in a patient with Diamond-Blackfan anemia: a case report.
J Med Case Rep
November 2024
Department of Medical Genetics, Adana Faculty of Medicine, Adana City Education and Research Hospital, University of Health Sciences, Adana, Turkey.
Article Synopsis
- Diamond-Blackfan anemia is a rare genetic disorder linked to mutations in ribosomal protein genes, and this report introduces a new variant in the RPS26 gene that hasn't been previously documented.
- A 16-month-old Turkish girl was diagnosed with the condition, showing symptoms like pallor and macrocytosis, with genetic testing revealing the novel c.221G>T (p.C74F) mutation in the RPS26 gene.
- This discovery highlights the complexity of Diamond-Blackfan anemia's genetic diversity and emphasizes the importance of genetic testing for accurate diagnosis and potential future treatments.
Gene-dose-dependent reduction of Fshr expression improves spatial memory deficits in Alzheimer's mice.
Mol Psychiatry
November 2024
Mount Sinai Center for Translational Medicine and Pharmacology, Department of Pharmacological Sciences, and Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Article Synopsis
- High levels of follicle-stimulating hormone (FSH) in post-menopausal women are linked to the development of Alzheimer's disease (AD), as shown by studies in mice.
- Mice lacking FSH receptors displayed improved spatial memory, indicating that blocking FSH signaling can help prevent memory loss related to aging and AD-like pathology.
- The findings suggest that targeting FSH could be a potential strategy for preventing memory deficits in post-menopausal women.
An Unexpected Response of Orbital Retinoblastoma to Inconsistent Systemic Chemotherapy Alone.
Case Rep Ophthalmol
October 2024
Department of Ophthalmology, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.
Introduction: A 16-month-old girl presented with bilateral germline retinoblastoma, with advanced retinoblastoma in the right eye and severe orbital retinoblastoma in the left eye. Patients typically receive treatment with the multimodal protocol consisting of chemotherapy, surgery, and radiotherapy, which has improved survival.
Case Presentation: Our patient elected for medical management with systemic chemotherapy instead of enucleation or exenteration.
Ileal venous malformation in a pediatric patient.
J Clin Ultrasound
November 2024
Department of Ultrasound, West China Second University Hospital, Sichuan University, Chengdu, China.
A 16-month-old girl presented with ileal venous malformation. Ultrasound facilitated a preoperative diagnosis, leading to a successful surgical resection. The study emphasizes the critical role of identifying sonographic features like intestinal wall thickening, a serpiginous mass with sluggish blood sinuses, and rich vascular flow for accurate diagnosis and timely treatment.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!