A case of large airway and orbital hemangiomas with facial capillary malformation

Pediatr Dermatol. 2023 Nov-Dec;40(6):1142-1144. doi: 10.1111/pde.15340. Epub 2023 May 10.

Abstract

Infantile hemangiomas (IHs) are the most common pediatric vascular tumors, although their genetic etiology is largely unknown. Congenital capillary malformations (CMs) are associated with known somatic pathogenic variants, including GNAQ, GNA11, PIK3CA, and PIK3R1. Co-occurrence of a facial CM such as port wine stain and IH is not associated with any recognized vascular anomaly syndromes and rarely reported in the literature. We describe a case of a 5-week-old female patient with a large facial CM and extensive IHs of the lower lip, airway, and orbit who presented with airway compromise and responded to propranolol therapy.

Keywords: airway obstruction; hemangioma; port-wine stain; propranolol; vascular malformations.

Publication types

  • Case Reports

MeSH terms

  • Capillaries / abnormalities
  • Child
  • Female
  • Hemangioma* / therapy
  • Hemangioma, Capillary* / complications
  • Hemangioma, Capillary* / drug therapy
  • Humans
  • Infant
  • Musculoskeletal Abnormalities*
  • Vascular Malformations* / complications
  • Vascular Malformations* / diagnosis
  • Vascular Malformations* / genetics

Supplementary concepts

  • Capillary Malformations, Congenital, 1