Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. We report a 5-year-old boy with all the typical findings of phacomatosis pigmentovascularis type Ia. Although its existence according to the traditional classification has been questioned, this case represents a very rare association of a capillary vascular malformation and a common keratinocytic nevus of the soft type.
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http://dx.doi.org/10.1155/2014/437085 | DOI Listing |
Neurosurg Rev
January 2025
Department of Neurosurgery, Pamukkale University School of Medicine, Kim Burchiel Gamma Knife Center, Denizli, Türkiye, Turkey.
This study aims to demonstrate the effect of gamma knife radiosurgery (GKRS) on symptoms, hemorrhage rates, and histopathological changes in patients with cavernous malformations (CMs), regardless of whether the symptomatic lesions are hemorrhagic. This single-center retrospective study evaluated symptomatic patients with single CMs treated with GKRS between 2016 and 2023. The patients' demographic data, presenting symptoms, GKRS radiation dose, complications developed during follow-up (hemorrhage, radiotoxicity), the rate of symptom improvement, and histopathological changes of surgically removed CMs were recorded.
View Article and Find Full Text PDFClin Case Rep
February 2025
Department of Radiology and Radiotherapy, School of Medicine, College of Health Sciences Makerere University Kampala Uganda.
Arteriovenous malformation (AVM) is a rare congenital vascular anomaly involving abnormal artery-vein connections that bypass the capillary system. AVMs are particularly uncommon in young children. A 3-year-old girl presented with a painless, progressively enlarging left cheek swelling since birth.
View Article and Find Full Text PDFEchocardiography
January 2025
Department of Ultrasound, Wuhan Asia Heart Hospital Affiliated to Wuhan University of Science and Technology, Wuhan Clinical Medical Research Center of Cardiovascular Imaging, Wuhan, China.
This manuscript presents a rare case of a complex pulmonary venous malposition with an intact atrial septum and ventricular septum. The study demonstrates the diagnostic utility of echocardiography and computed tomography in the evaluation of complex congenital heart disease.
View Article and Find Full Text PDFLife Metab
October 2024
Department of Vascular Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
Downregulated RhoA/ROCK1/YAP/F-actin axis leads to decreased AoSMC stiffness and promotes AD formation.
View Article and Find Full Text PDFFront Genet
January 2025
Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Introduction: related disorders (PRD, OMIM: *171834) are genetic disorders resulting from pathogenic somatic mosaic variants in the gene, which encodes a protein crucial for regulating cell growth and division. PRD typically manifest during the post-zygotic phase, leading to a broad spectrum of overgrowth and vascular malformations affecting various body regions.
Methods: Conventional diagnostic methods struggle to detect and confirm pathogenic PIK3CA gene variants due to the mosaic nature of these disorders and the limited accessibility of affected tissues.
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