Infantile hemangiomas (IHs) are the most prevalent noncancerous childhood tumors, affecting up to 10% of infants. IHs develop de novo and following excessive proliferation in the first 4-9 months; they typically degenerate spontaneously in 4-7 years. While treatment is not usually required, 10-15% of cases necessitate clinical or surgical intervention due to functional impairments. Here, we present a complicated capillary IH case, from a clinical and genetic perspective. A 13-month-old patient, with free family history, presented with a cutaneous capillary-venous malformation of the thigh as well as pelvic and gluteal subcutaneous masses, resulting in urinary-bladder displacement, kidney distention, cortical thinning, pyelocaliceal dilation, and rectosigmoid displacement. Following the alleviation of the patient's symptoms and the conduction of a percutaneous nephrostomy, Sirolimus was administered for 2 years at the recommended dose. Moreover, after clinical genetic examination and informed consent of the parents, genomic DNA was extracted from a patient's peripheral blood sample and an analysis of whole-exon sequencing (WES) was performed. Treatment was successful in diminishing the pelvic and gluteal masses, but the cutaneous malformation remained. WES revealed the heterozygous c.1416A>T:p.Q472H mutation in exon 11 of the KDR gene, that encodes kinase insert domain receptor. According to the clinical presentation and the results of the genetic analysis, the patient was diagnosed with segmental capillary IH, caused by a missense pathogenic variant in the KDR gene, which impairs protein function and might also be responsible for the presented subcutaneous malformations.

LUMBAR syndrome is a rare condition with natural history and long-term outcomes that have not been well described. This acronym represents the constellation of features associated with the condition: Lower body hemangiomas with Urogenital anomalies and Ulceration, spinal cord Malformations, Bony defects of the spine and lower extremities, and Anorectal, Arterial, and/or Renal anomalies. The associated infantile hemangioma is the most notable feature, which occurs in a segmental pattern affecting the lower half of the body. Recent publications have described the clinical features of LUMBAR syndrome, its overlap with other lower body syndromes, and, notably, a landmark paper establishing diagnostic criteria through Delphi consensus. This paper aims to provide a comprehensive review of the clinical features, diagnostic criteria, pathophysiology, treatment options, and outcomes associated with LUMBAR syndrome.

To explore the displacement and pressure distribution of American Chiropractic in a model of third lumbar syndrome based on finite element analysis. On March 2021, CT and MRI images of a 23-year-old male patient with right third lumbar syndrome were selected. A 3D stl model was established using Mimics and CATIA, and the data was imported into Hypermesh, Abaqus & ANSYS. The elastic modulus and Poisson's ratio of the affected side material were adjusted to establish its finite element model. Based on the comparison of the operating positions and routines of the American Chiropractic and the lumbar spine oblique pull method, but with differences in the focus and direction of force, the experimental group simulated the American Chiropractic with the healthy side (left side) lying position of the model. The upper endplate of L3 and the lower part below L3 twisted accordingly with the body position, we applied a vertical forward thrust of 246 N to the plane formed by the L4, L5 spinous processes and L4 upper articular processes;The control group simulates the oblique pull method of the lumbar spine, requiring the model to lie on the healthy side (left side), fix the upper endplate of L4, and perform a horizontal rotation along the longitudinal axis of L3 vertebral body. At this time, the contact force in the upward direction is also set to 246 N. Compare the displacement and stress differences between the L1-L5 intervertebral bodies, intervertebral discs, articular processes, and transverse process muscles in two intervention models. ① Under safe load conditions, a test force of 246 N was applied to the model, and the maximum vertebral displacement occurred on the right side of the L3 vertebral body (1.197 mm) after manual intervention in the control group. The vertebral displacement between L1-L5 induced by manual intervention in the experimental group was smaller than that of the control group's manual intervention (P<0.05). ② The maximum vertebral body stress occurred on the right side of the L3 vertebral body after manual intervention in the control group (98.425 MPa). The stress on each vertebral body formed by the experimental group's manual intervention was lower than that of the control group's manual intervention (P<0.05). ③The maximum intervertebral disc stress occurred on the right side of the L2,3 intervertebral disc (6.282 MPa) after manual intervention in the control group. ④ The maximum joint process stress occurred on the right side of the L4 upper joint process after manual intervention in the experimental group (1.587 MPa). The joint process stress on the left side below L1 and the left side above and below L2 induced by manual intervention in the experimental group was lower than that of the control group (P<0.05). ⑤The maximum stress on the intertransverse process muscle was observed at the right lateral L3 process end (31.960 MPa) of L3,4 in the control group after manual intervention. The stress on the L2,3 and L4,5 segments of the intertransverse process muscle induced by manual intervention in the experimental group was lower than that of the control group's manual intervention (P<0.05). The mechanical feedback of the L1-L5 vertebral body, the lower left side of the articular process L1, the upper and lower left side of the articular process L2, and the L2,3 and L4,5 segments of the transverse process muscle in the model indicates that performing American Chiropractic for the treatment of third lumbar transverse process syndrome can accurately hit the target pain point and allow the patient's tissue to form a low stress and low tension state after manual operation, thereby reducing the possibility of tissue damage caused by hypertonia after intervertebral joint movement, making it relatively safe. The application of American Chiropractic will be a new supplement to the traditional treatment plan for third lumbar transverse process syndrome.

LUMBAR syndrome is the association of segmental infantile hemangiomas that affect the Lower part of the body with Urogenital anomalies, hemangioma Ulceration, spinal cord Malformations, Bony deformities, Anorectal malformations, Arterial anomalies and/or Renal anomalies. The etiology is not known but is suspected to be multifactorial, involving genetic and environmental factors. We retrospectively reviewed a large database of 109 published reports of LUMBAR syndrome to study potential associated clinical risk factors, the first such effort. LUMBAR is significantly more common in full-term, normal birth weight, singleton girls. We found no statistically significant differences in disease severity between affected girls and boys. There were no reports in twins or other multiple births, no reports of familial recurrence, and no repeated maternal illnesses, exposures, or other prenatal risk factors. Prospective studies in LUMBAR syndrome are needed to further evaluate maternal risk factors for prenatal hypoxia, gene-environment interactions, and genetic susceptibility variants.

Infantile hemangiomas are the most common soft tissue tumors in infancy, most following a benign and predictable course. However, some hemangiomas, particularly those in the lower body, can indicate underlying syndromic anomalies, as seen in lower body hemangiomas and other cutaneous defects, urogenital anomalies, ulceration, myelopathy, bony deformities, anorectal malformations, arterial anomalies, and renal anomalies (LUMBAR) syndrome. This report presents the case of a term infant with a large superficial ulcerated sacral hemangioma and associated spinal dysraphism, including tethered cord, partial sacral agenesis, and intraspinal lipoma. The early multidisciplinary evaluation confirmed the diagnosis of LUMBAR syndrome, and the patient underwent surgical management of cutaneous discontinuities and initiated oral propranolol. Propranolol was effective in resolving the ulcerated component of the hemangioma. This case highlights the importance of recognizing lower body hemangiomas as markers for potential underlying anomalies, emphasizing the role of early diagnosis, comprehensive imaging, and multidisciplinary care in optimizing outcomes for this rare but complex syndrome.