Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome

Denise Metry; Hillary L Copp; Kristy L Rialon; Ionela Iacobas; Eulalia Baselga; William B Dobyns; Beth Drolet; Ilona J Frieden; Maria Garzon; Anita Haggstrom; Darrell Hanson; Laura Hollenbach; Kim M Keppler-Noreuil; Mohit Maheshwari; Dawn H Siegel; Shamaila Waseem; Mark Dias

doi:10.1016/j.jpeds.2024.114101

Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome

J Pediatr. 2024 May 15:272:114101. doi: 10.1016/j.jpeds.2024.114101. Online ahead of print.

Authors

Denise Metry¹, Hillary L Copp², Kristy L Rialon³, Ionela Iacobas⁴, Eulalia Baselga⁵, William B Dobyns⁶, Beth Drolet⁷, Ilona J Frieden⁸, Maria Garzon⁹, Anita Haggstrom¹⁰, Darrell Hanson¹¹, Laura Hollenbach¹², Kim M Keppler-Noreuil¹³, Mohit Maheshwari¹⁴, Dawn H Siegel¹⁵, Shamaila Waseem¹⁶, Mark Dias¹⁷

Affiliations

¹ Department of Dermatology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX.
² Department of Urology, University of California-San Francisco, San Francisco, CA.
³ Department of Surgery, Division of Pediatric Surgery, Texas Children's Hospital, Baylor College of Medicine, Houston, TX.
⁴ Department of Pediatrics, Cancer and Hematology Centers, Texas Children's Hospital, Baylor College of Medicine, Houston, TX.
⁵ Department of Dermatology, Hospital San Joan de Deu, Barcelona, Spain.
⁶ Department of Genetics, University of Minnesota, Minneapolis, MN.
⁷ Department of Dermatology, University of Wisconsin, Madison, WI.
⁸ Department of Dermatology and Pediatrics, University of California, San Francisco, San Francisco, CA.
⁹ Department of Dermatology and Pediatrics, Columbia University, New York, NY.
¹⁰ Department of Dermatology, Indiana University, Indianapolis, IN.
¹¹ Department of Orthopedics and Sports Medicine, Houston Methodist Hospital, Houston, TX.
¹² Department of Gynecology, University of Arkansas, Fayetteville, AR.
¹³ Department of Genetics, University of Wisconsin, Madison, WI.
¹⁴ Department of Radiology, Medical College of Wisconsin, Madison, WI.
¹⁵ Department of Dermatology, Stanford University, Stanford, CA.
¹⁶ Department of Gastroenterology, Indiana University School of Medicine, Indianapolis, IN.
¹⁷ Department of Neurosurgery, Pennsylvania State College of Medicine, Hershey, PA.

PMID: 38759778
DOI: 10.1016/j.jpeds.2024.114101

Abstract

Objective: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies.

Study design: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists.

Results: After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems.

Conclusions: These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.

Keywords: MURCS association; OEIS complex; PELVIS syndrome; PHACE syndrome; SACRAL syndrome; anorectal malformations; bony defects; renal anomalies; segmental infantile hemangioma; spinal cord malformations; urogenital anomalies.