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Gastrointestinal Manifestations of CLOVES Syndrome

Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and scoliosis/skeletal/spinal anomalies (CLOVES) is a recently recognized syndrome. It is caused by somatic mutations in the PIK3CA gene that regulates cell growth and division. Although gastrointestinal manifestations of othe...

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Detalles Bibliográficos
Autores principales: St-Pierre, Joëlle, Mirakhur, Anirudh, Forbes, Nauzer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10171795/
https://www.ncbi.nlm.nih.gov/pubmed/37180463
http://dx.doi.org/10.14309/crj.0000000000001050
Descripción
Sumario:Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and scoliosis/skeletal/spinal anomalies (CLOVES) is a recently recognized syndrome. It is caused by somatic mutations in the PIK3CA gene that regulates cell growth and division. Although gastrointestinal manifestations of other PIK3CA-associated disorders have been described, they have not been well-characterized in CLOVES syndrome. We present a case report of a 34-year-old man with an established diagnosis of CLOVES syndrome who underwent a diagnostic colonoscopy for hematochezia and colonic wall thickening on imaging. Colonoscopy revealed widespread variceal-like submucosal lesions. Computed tomography/angiography showed the absence of the inferior mesenteric vein, impairing venous drainage.