LUMBAR syndrome

Last edited 07/2022 and last reviewed 03/2023

LUMBAR syndrome

• lower body haemangioma, urogenital abnormalities/ulceration, myelopathy, bony deformities, anorectal malformations
• may best be viewed as the "lower half of the body" equivalent of PHACE syndrome (1)
  • congenital anomaly with large segmental infantile haemangiomas (IHs) involving the lower half of the body, such as the perineal, gluteal, or lumbosacral skin, often extending onto a unilateral lower extremity, undergrowth or overgrowth of the affected extremity, urogenital anomalies and ulceration, myelopathy, bony deformities, anorectal malformations, arterial anomalies, and renal anomalies (2)
  • acronym "LUMBAR" was chosen to describe the association of Lower body hemangioma and other cutaneous defects, Urogenital anomalies, Ulceration, Myelopathy, Bony deformities, Anorectal malformations, Arterial anomalies, and Renal anomalies (3)

Reference:

• Krowchuk DP, Frieden IJ, Mancini AJ, Darrow DH, Blei F, Greene AK, Annam A, Baker CN, Frommelt PC, Hodak A, Pate BM, Pelletier JL, Sandrock D, Weinberg ST, Whelan MA; SUBCOMMITTEE ON THE MANAGEMENT OF INFANTILE HEMANGIOMAS. Clinical Practice Guideline for the Management of Infantile Hemangiomas. Pediatrics. 2019 Jan;143(1):e20183475.
• Jung HL. Update on infantile hemangioma. Clin Exp Pediatr. 2021 Nov;64(11):559-572. doi: 10.3345/cep.2020.02061.
• Iacobas I, Burrows PE, Frieden IJ, Liang MG, Mulliken JB, Mancini AJ, Kramer D, Paller AS, Silverman R, Wagner AM, Metry DW. LUMBAR: association between cutaneous infantile hemangiomas of the lower body and regional congenital anomalies. J Pediatr. 2010 Nov;157(5):795-801.e1-7.