Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of CLAPO syndrome

Pediatr Dermatol. 2018 Jul;35(4):e243-e244. doi: 10.1111/pde.13514. Epub 2018 May 15.


Characteristic lower lip capillary malformation of CLAPO syndrome (Capillary malformation of the lower lip, Lymphatic malformations of the face and neck, Asymmetry, and Partial or generalized Overgrowth) may also occur as an isolated lesion or with only minor anomalies, supporting the concept that there is a spectrum of abnormalities in CLAPO syndrome. Preliminary studies have demonstrated mosaic activating mutations in PIK3CA.

Keywords: genetic diseases; mechanisms; vascular malformation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Arteriovenous Malformations / diagnosis*
  • Child
  • Class I Phosphatidylinositol 3-Kinases / genetics
  • Female
  • Humans
  • Lip / pathology
  • Lymphatic Diseases / diagnosis*
  • Mutation
  • Tongue / pathology


  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human

Supplementary concepts

  • CLAPO Syndrome