OBJECTIVE: To define the clinical spectrum of regional congenital anomalies associated with large cutaneous hemangiomas of the lower half of the body, clarify risk for underlying anomalies on the basis of hemangioma location, and provide imaging guidelines for evaluation. STUDY DESIGN: We conducted a multi-institutional, retrospective case analysis of 24 new patients and review of 29 published cases. RESULTS: Hemangiomas in our series tended to be "segmental" and often "minimal growth" in morphology. Such lesions were often extensive, covering the entire leg. Extensive limb hemangiomas also showed potential for extracutaneous anomalies, including underlying arterial anomalies, limb underdevelopment, and ulceration. The cutaneous hemangioma and underlying anomalies demonstrated regional correlation. Myelopathies were the most common category of associated anomalies. CONCLUSIONS: We propose the acronym "LUMBAR" 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. There are many similarities between LUMBAR and PHACE syndrome, which might be considered regional variations of the same. Although guidelines for imaging are suggested, prospective studies will lead to precise imaging recommendations and help determine true incidence, risk and long-term outcomes.
OBJECTIVE: To define the clinical spectrum of regional congenital anomalies associated with large cutaneous hemangiomas of the lower half of the body, clarify risk for underlying anomalies on the basis of hemangioma location, and provide imaging guidelines for evaluation. STUDY DESIGN: We conducted a multi-institutional, retrospective case analysis of 24 new patients and review of 29 published cases. RESULTS:Hemangiomas in our series tended to be "segmental" and often "minimal growth" in morphology. Such lesions were often extensive, covering the entire leg. Extensive limb hemangiomas also showed potential for extracutaneous anomalies, including underlying arterial anomalies, limb underdevelopment, and ulceration. The cutaneous hemangioma and underlying anomalies demonstrated regional correlation. Myelopathies were the most common category of associated anomalies. CONCLUSIONS: We propose the acronym "LUMBAR" 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. There are many similarities between LUMBAR and PHACE syndrome, which might be considered regional variations of the same. Although guidelines for imaging are suggested, prospective studies will lead to precise imaging recommendations and help determine true incidence, risk and long-term outcomes.
Authors: Wendy E Schumacher; Beth A Drolet; Mohit Maheshwari; Kimberly A Horii; Amy J Nopper; Brandon D Newell; Denise W Metry; Maria C Garzon; Kimberly D Morel; Sarah L Chamlin; Anthony J Mancini; Ilona J Frieden; Craig M Johnson Journal: Pediatr Radiol Date: 2011-12-04
Authors: Kala F Schilter; Jack E Steiner; Wendy Demos; Mohit Maheshwari; Jeremy W Prokop; Elizabeth Worthey; Beth A Drolet; Dawn H Siegel Journal: Am J Med Genet A Date: 2017-07-07 Impact factor: 2.802
Authors: Dawn H Siegel; Joseph T C Shieh; Eun-Kyung Kwon; Eulalia Baselga; Francine Blei; Maria Cordisco; William B Dobyns; Kelly J Duffy; Maria C Garzon; David L Gibbs; Johannes F Grimmer; Susan J Hayflick; Alfons L Krol; Pui-Yan Kwok; Rachel Lorier; Andrea Matter; Shannon McWeeney; Denise Metry; Sheri Mitchell; Elena Pope; Jennifer L Santoro; David A Stevenson; Pinar Bayrak-Toydemir; Beth Wilmot; Elizabeth A Worthey; Ilona J Frieden; Beth A Drolet; Ulrich Broeckel Journal: J Invest Dermatol Date: 2012-10-25 Impact factor: 8.551