Hemangioma-related syndromes

Curr Opin Pediatr. 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925.


Purpose of review: There is a growing understanding of complications and anomalies associated with infantile hemangiomas. The current review will discuss recent clinical advances in syndromes associated with segmental hemangiomas, including PHACE and LUMBAR syndrome. In addition, the importance of recognizing visceral hemangiomatosis is highlighted.

Recent findings: Ongoing longitudinal studies of PHACE and LUMBAR syndromes associated with segmental infantile hemangiomas have led to improved diagnosis and recommendations for screening for associated anomalies. Characterization of a growing spectrum of associated anomalies as well as better classification of at-risk patients will improve diagnosis and outcomes. In addition, visceral hemangiomatosis recognition and understanding of the potential association with consumptive hypothyroidism will improve initiation of appropriate screening.

Summary: Clinicians should be aware of infantile hemangiomas associated with potential syndromic complications and recognize the need to initiate appropriate work-up. Segmental hemangiomas of the head and neck region may indicate a risk of PHACE syndrome and associated developmental anomalies. Although LUMBAR syndrome is the association of lower body segmental hemangioma with developmental anomalies. Visceral hemangiomas most commonly affect the liver and may be associated with complications such as consumptive hypothyroidism and heart failure.

Publication types

  • Review

MeSH terms

  • Hemangioma*
  • Humans
  • Infant
  • Joint Instability
  • Neurocutaneous Syndromes*
  • Phimosis
  • Skin Abnormalities
  • Skin Neoplasms*
  • Syndrome

Supplementary concepts

  • Hemangiomatosis, Cutaneous, with Associated Features