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CLOVES Syndrome in a Nine-month-old Infant

CLOVES syndrome is a recently described overgrowth syndrome. Clinically, it is characterized by congenital lipomatous overgrowth (CLO), vascular anomalies (V), epidermal nevi (E), and skeletal deformities (S). Genetically, it is characterized by a somatic gain-of-function mutation of the phosphatidy...

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Detalles Bibliográficos
Autores principales: Alomar, Sara, Khedr, Rewana E, Alajlan, Saad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825489/
https://www.ncbi.nlm.nih.gov/pubmed/31723531
http://dx.doi.org/10.7759/cureus.5772
Descripción
Sumario:CLOVES syndrome is a recently described overgrowth syndrome. Clinically, it is characterized by congenital lipomatous overgrowth (CLO), vascular anomalies (V), epidermal nevi (E), and skeletal deformities (S). Genetically, it is characterized by a somatic gain-of-function mutation of the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. This somatic mutation is, in turn, associated with the activation of the protein kinase B-mammalian target of the rapamycin (AKT-mTOR) pathway that drives various signaling cascades. The end result is eventually promoting cell proliferation, growth, and survival. CLOVES syndrome is exceedingly uncommon, with less than 200 cases currently documented. Herein, we describe a case of CLOVES syndrome in a nine-month-old male infant who was referred to our dermatology clinic for further assessment and management. The diagnosis was made based on clinical findings and confirmed by genetic testing.