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Proteus syndrome (PS) is a rare and sporadic disorder characterized by overgrowth of multiple tissues and a propensity to develop particular neoplasms. The clinical manifestations of PS include macrodactyly, vertebral abnormalities, asymmetric limb overgrowth and length discrepancy, hyperostosis, abnormal and asymmetric fat distribution, asymmetric muscle development, connective tissue nevi, and vascular malformations. We report a 16-year old female patient who manifested a number of these complications and review the Chinese literature about the diagnosis, natural history, and management of PS.
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http://dx.doi.org/10.4081/dr.2010.e3 | DOI Listing |
Pediatr Dermatol
September 2025
Department of Dermatology, Hospital Sant Joan de Déu, Barcelona, Spain.
Proteus syndrome (PS) is a rare genetic disorder caused by mosaic AKT1 mutations, leading to progressive and asymmetric overgrowth. We report a mildly symptomatic 12-year-old male with left lower limb overgrowth and an epidermal nevus, whose diagnosis was confirmed through molecular diagnostics. Targeted NGS identified the pathogenic AKT1 c.
View Article and Find Full Text PDFCase Rep Pediatr
August 2025
Department of Pediatrics, The Third Affiliated Hospital, Sun Yat-sen University, Guangzhou 510630, China.
Proteus syndrome (PS) is an exceptionally rare disorder characterized by asymmetric and disproportionate overgrowth of connective tissues. We report the case of an 8-year-old female presenting with irregular cranial protrusion, bilateral supraorbital ridge enlargement, overgrowth of the right hand and left foot, and a pelvic MRI revealing an ovarian tumor. Initially, the patient was suspected of having Maffucci syndrome (MS) upon admission.
View Article and Find Full Text PDFCureus
July 2025
Department of Obstetrics, Université Catholique de Louvain, Brussels, BEL.
We report a rare case of partial prenatal diagnosis of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies (CLOVES) syndrome in a fetus presenting extensive dorsal lymphatic malformation, bilateral polydactyly and syndactyly, hypertrophy on the left foot, and suspected cryptorchidism. Amniocentesis with comparative genomic hybridization (CGH) and trio-exome sequencing did not reveal any pathogenic variant. Postnatal clinical examination and imaging confirmed the malformations, including a multilocular macrocystic lymphatic malformation with retroperitoneal extension.
View Article and Find Full Text PDFEur Heart J Cardiovasc Imaging
August 2025
Department of Radiology, West China Hospital, Sichuan University, 37# Guo Xue Xiang, Chengdu, Sichuan 610041, China.