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Presentation

Infantile Hemangioma Syndromes: An Update

Description

Dr. Sheila McGinnis, a pediatric dermatologist, leads a session on vascular anomalies, focusing on face and lumbar syndrome - two rare neurocutaneous syndromes involving large segmental hemangiomas and regional congenital anomalies. Face syndrome is characterized by neurovascular issues, while lumbar syndrome often includes spinal cord anomalies. In discussing these syndromes, Dr. Denise Metri provides insights on their prevalence, diagnosis, and management. Notably, face syndrome is more common, with significant neurological and cardiovascular risks, while lumbar syndrome has shown a correlation with renal and spinal anomalies. Key evaluations include imaging for potential vascular issues and assessing the impact of hemangiomas on overall health. Management often involves the use of Propranolol, particularly for ulcerating hemangiomas, and highlights challenges in treating and supporting families. Future directions include ongoing research to understand genetic factors and improve patient outcomes, emphasizing the need for comprehensive approaches in monitoring and support.

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Conclusions

Infantile hemangiomas are associated with rare neurocutaneous syndromes known as PHACE and LUMBAR, which involve segmental hemangiomas and various congenital anomalies.
PHACE syndrome is more prevalent, affecting 2-3% of infants with large facial hemangiomas, while LUMBAR syndrome has approximately 150 documented cases.
Both syndromes exhibit a female predominance, tend to occur in term, normal birth weight, singleton infants, primarily of White or Hispanic ethnicity, and show no familial inheritance pattern.
The pathogenesis of both syndromes is unclear but may involve early embryonic insults, vascular disruptions, and potentially genetic factors like the RAS/PI3K pathway.
Clinical features of PHACE syndrome include cerebrovascular and cardiovascular anomalies, while LUMBAR syndrome is characterized by spinal dysraphism and related urinary anomalies.
Management usually includes oral propranolol for hemangiomas, with additional wound care for ulcerations and other supportive therapies as needed.
Monitoring for developmental delays, hearing loss, and other long-term sequelae is critical in both syndromes, with tailored follow-up required based on individual patient needs.
Future research is needed to better understand the natural history of these syndromes, improve diagnostic criteria, and develop potential targeted therapies.

Davenport R et al. Pediatr Dermatol 2022.
Shayegan LH et al. JOVA 2022.
Frieden IJ et al. Arch Dermatol 1996.
Haggstrom AN et al. Pediatrics 2010.
Cotton CH et al. JAMA Dermatol 2021.
Metry DW et al. J Peds 2024.
Partan ES et al. medRxiv 2021.
Mark PR. AJMG 2022.
Endicott AA et al. JAMA Dermatol 2021.
Suh K-Y et al. Arch Dermatol 2010.
Nowakowska MK et al. Pediatr Dermatol 2023.
Stephanko NS et al. Pediatr Dermatol 2020.
Hess CP et al. Am J Neuroradiol 2010.
Siegel DH et al. Stroke 2012.
Fernandez-Faith E et al. JAMA Dermatol 2021.
Hausman-Kedem M. (comment by Siegel D. et al). Dev Med Child Neurol 2024.
Garzon MC et al. J Pediatr 2016.