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

Camila Downey, Juan Carlos López-Gutiérrez, Esther Roé-Crespo, Luis Puig, Eulalia Baselga

Research output: Contribution to journalArticleResearchpeer-review

2 Citations (Scopus)

Abstract

© 2018 Wiley Periodicals, Inc. 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.
Original languageEnglish
Pages (from-to)e243-e244
JournalPediatric Dermatology
Volume35
Issue number4
DOIs
Publication statusPublished - 1 Jul 2018

Keywords

  • genetic diseases
  • mechanisms
  • vascular malformation

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