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http://dx.doi.org/10.1302/0301-620X.64B1.7068726 | DOI Listing |
J Surg Case Rep
December 2024
Urology Department, Hamad Medical Corporation, Doha, Qatar.
Pelvic lipomatosis (PL) involves nonmalignant excess fat growth in perirectal and perivesical areas, gaining recognition over three decades. This review addresses its clinicopathological aspects amid controversies, emphasizing the need for a comprehensive examination of current literature. This report outlines a 42-year-old man's diagnostic journey for persistent urological symptoms, ultimately identified as PL.
View Article and Find Full Text PDFCureus
October 2024
Division of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, PRT.
Skinmed
August 2024
Consultant Pathologist, Dr. Lal Path Labs, Bathinda, Punjab, India.
Ann Plast Surg
April 2024
Department of Plastic Surgery.
Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome and subclassification of oculoectodermal syndrome. Encephalocraniocutaneous lipomatosis may be associated with postzygotic mutations. However, absence of an identifiable mutation does not preclude a diagnosis of ECCL.
View Article and Find Full Text PDFJ Med Genet
April 2024
Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Background: Cutaneous epidermal nevi are genotypically diverse mosaic disorders. Pathogenic hotspot variants in , , and less frequently and may cause isolated keratinocytic epidermal nevi and sebaceous nevi or several different syndromes when associated with extracutaneous anomalies. Therefore, some authors suggest the concept of mosaic RASopathies to group these different disorders.
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