Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi

Definition:

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progressive or distorting bony overgrowth. The key feature of this syndrome is a truncal lipomatous mass of variable size that is noted at birth. The fatty growths often extend from the trunk into the retroperitoneum, mediastinum, thoracic cavity, and epidural space. Deeper fast-flow and slow-flow vascular anomalies become evident early in childhood. Most acral deformities become accentuated with growth, are often symmetrical, are not rapidly progressive, and are commonly misdiagnosed as Proteus syndrome. This syndrome is caused by somatic activating mutations in PIK3CA.

References:

[1]. Jacob Bloom, et al. CLOVES syndrome. J Hand Surg Am. 2013 Dec;38(12):2508-12. [Content Brief]

[2]. Julie C Sapp, et al. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A. 2007 Dec 15;143A(24):2944-58. [Content Brief]

[3]. Kyle C Kurek, et al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet. 2012 Jun 8;90(6):1108-15. [Content Brief]

[4]. Marjorie J Lindhurst, et al. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet. 2012 Jun 24;44(8):928-33. [Content Brief]

[5]. Wibke Uller, et al. Overgrowth syndromes with complex vascular anomalies. Semin Pediatr Surg. 2014 Aug;23(4):208-15. [Content Brief]

[6]. Zoran S Gucev, et al. Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. Am J Med Genet A. 2008 Oct 15;146A(20):2688-90. [Content Brief]

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