CLOVES syndrome

Evidence-based neurology checklist on cloves syndrome: Genetics This is caused by a PIK3CA mosaic gene mutation It causes abnormal activation of the PI3K-AKT-mTOR pathway Pathological features Core features Associated features Differential diagnosis: PIK3CA related overgrowth syndromes (PROS)…

Genetics

  • This is caused by a PIK3CA mosaic gene mutation
  • It causes abnormal activation of the PI3K-AKT-mTOR pathway

Pathological features

Core features

Associated features

Differential diagnosis: PIK3CA related overgrowth syndromes (PROS)

Differential diagnosis: others

Magnetic resonance imaging (MRI) brain

Other investigations

Investigational treatments

Acronym

References

  1. Guillet A, Aubert H, Tessier MH, et al. CLOVES syndrome: a malformational syndrome closely resembling Proteus syndrome. Ann Dermatol Venereol 2014; 141:507-513.
  2. Martinez-Lopez A, Blasco-Morente G, Perez-Lopez I, et al. CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). Clin Genet 2017; 91:14-21.
  3. Weissler JM, Shubinets V, Carney MJ, Low DW. Complex truncal masses in the setting of CLOVES syndrome: aesthetic and functional implications. Aesthetic Plast Surg 2017; 41:591-599. 
  4. Song W, Kwee TC, Suurmeijer AJ. Macrodactyly with a complex glomuvenous malformation in congenital lipomatous overgrowth with vascular malformations, epidermal naevi and skeletal anomalies (CLOVES) syndrome. Histopathology 2018; 73:705-708. 
  5. Peterman CM, Fevurly RD, Alomari AI, et al. Sonographic screening for Wilms tumor in children with CLOVES syndrome. Pediatr Blood Cancer 2017; 64(12). 
  6. And 13 more. Subscribe to see the full list

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