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Infantile hemangiomas and structural anomalies: PHACE and LUMBAR syndrome

Minnelly Luu1, Ilona J Frieden2

  • 1Department of Dermatology, University of Southern California, Los Angeles, California, USA. mluu@chla.usc.edu.

Seminars in Cutaneous Medicine and Surgery
|September 9, 2016
PubMed

Insights

Infantile hemangiomas can indicate serious structural anomalies. This review updates understanding of PHACE Syndrome (head/neck) and LUMBAR Syndrome (lower body) in infants.

Area of Science:

  • Pediatric Medicine
  • Genetics
  • Dermatology

Background:

  • Infantile hemangiomas (IH) are common vascular tumors in infants.
  • A subset of infants with IH present with extracutaneous anomalies, forming distinct syndromes.
  • PHACE Syndrome and LUMBAR Syndrome are the most recognized syndromes associated with IH.

Purpose of the Study:

  • To provide an updated review of PHACE and LUMBAR syndromes.
  • To detail the presentation and associated anomalies of these syndromes.
  • To discuss current management strategies for PHACE and LUMBAR syndromes.

Main Methods:

  • Literature review of PHACE and LUMBAR syndromes.
  • Analysis of clinical presentations and diagnostic criteria.
  • Synthesis of management guidelines and treatment outcomes.

Main Results:

  • PHACE Syndrome involves anomalies of the Posterior fossa, Eyes, Heart, great vessels, and Esophagus/Aorta, often with ventral abdominal wall defects.
  • LUMBAR Syndrome involves anomalies of the Lower body, including the Urogenital system, Malformation of the abdominal wall, VACTERL-type anomalies, Anal atresia, and Renal anomalies.
  • Both syndromes exhibit a broader phenotypic spectrum than initially described, with overlapping features in some cases.

Conclusions:

  • Early recognition and diagnosis of PHACE and LUMBAR syndromes are crucial for appropriate management.
  • Multidisciplinary care is essential for addressing the complex anomalies associated with these syndromes.
  • Ongoing research is refining the understanding and treatment of IH-associated syndromes.

Keywords:
LUMBAR SyndromePHACE Syndromeinfantile hemangiomastructural anomalies

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