Exploring Prenatal Signs of Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal Anomalies (CLOVES) Syndrome: A Case Report and Literature Review

Henuzet, Emily;Boon, Laurence;Dumitriu, Dana Ioana;Peetermans, Leentje;Steenhaut, Patricia
(2025) Cureus — Vol. 17, n° 7 (2025)

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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. Sirolimus therapy was initiated, resulting in a modest reduction in the volume of the dorsal mass within the first two months of treatment. This report underscores key prenatal features that may raise suspicion for CLOVES syndrome, helping clinicians to differentiate it from other overgrowth disorders such as Proteus syndrome and conditions within phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum (PROS), supporting improved diagnosis and counseling during pregnancy.
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Henuzet, E., Boon, L., Dumitriu, D. I., Peetermans, L., & Steenhaut, P. (2025). Exploring Prenatal Signs of Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal Anomalies (CLOVES) Syndrome: A Case Report and Literature Review. Cureus, 17(7). https://doi.org/10.7759/cureus.88455 (Original work published 2025)