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Identification of a Biallelic Missense Variant in Gasdermin D (c.823G > C, p.Asp275His) in a Patient of Atypical Gorham-Stout Disease in a Consanguineous Family.
JBMR Plus
September 2023
Department of Joint Surgery and Sports Medicine TMDU Tokyo Japan.
Gorham-Stout disease (GSD), also called vanishing bone disease, is a rare osteolytic disease, frequently associated with lymphangiomatous tissue proliferation. The causative genetic background has not been noted except for a case with a somatic mutation in . However, in the present study, we encountered a case of GSD from a consanguineous family member.
View Article and Find Full Text PDFDelimiting CD34+ Stromal Cells/Telocytes Are Resident Mesenchymal Cells That Participate in Neovessel Formation in Skin Kaposi Sarcoma.
Int J Mol Sci
February 2023
Department of Basic Medical Sciences, Faculty of Medicine, University of La Laguna, 38071 Tenerife, Spain.
Kaposi sarcoma (KS) is an angioproliferative lesion in which two main KS cell sources are currently sustained: endothelial cells (ECs) and mesenchymal/stromal cells. Our objective is to establish the tissue location, characteristics and transdifferentiation steps to the KS cells of the latter. For this purpose, we studied specimens of 49 cases of cutaneous KS using immunochemistry and confocal and electron microscopy.
View Article and Find Full Text PDFGiant cavernous malformation of the posterior fossa with lymphangiomatous phenotype, associated with orbital venolymphatic anomaly in an 11-month-old patient: case report and literature review.
Childs Nerv Syst
January 2023
Genetics Service, Hospital Nacional Docente Madre Niño San Bartolome, Lima, Peru.
The synchronous presentation of venolymphatic anomalies of the orbit and noncontiguous intracranial cavernous malformations is uncommon. Herein, we present a case of an 11-month-old female patient diagnosed with orbital venolymphatic anomaly associated with a large cavernous malformation in the posterior fossa, who underwent complete surgical resection of the latter. The immunohistochemical analysis was positive for podoplanin, a marker expressed by lymphatic endothelial cells, but not vascular endothelium.
View Article and Find Full Text PDFLymphangiomatous endothelial cyst of the adrenal gland: A case report.
Urol Case Rep
November 2021
Habib Bourguiba Hospital, Urology Department, Sfax, Tunisia.
Cystic adrenal tumors are rare with an incidence of approximately 0.06% in the general population. Four main histological types are distinguished: Endothelial cysts of lymphangiomatous or angiomatous origin, pseudocysts, epithelial cysts and cysts of parasitic origin.
View Article and Find Full Text PDFTopical sirolimus 1% for benign lymphangiomatous papules after radiotherapy for endometrial and breast cancers: a report of three cases.
Eur J Dermatol
April 2021
Department of Dermatology and Reference Centre for Rare Diseases and Vascular Malformations (MAGEC), CHRU Tours, 37044 Tours Cedex 9, France, Universities of Tours and Nantes, INSERM 1246 - SPHERE, 37000 Tours, France.
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