Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.

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.

Clinical Features of Segmental Infantile Hemangioma: A Prospective Study.

BACKGROUND: Infantile hemangioma (IH) is the most common benign tumor in children. However, few studies have reported the clinical features of segmental IH. We aimed to determine the clinical characteristics of segmental IH and to identify features that may aid clinicians in managing segmental IH. METHODS: In the cross-sectional prospective study approved by the Ethics Committee of the hospital, children diagnosed with IH were recruited, and information including patient demographics, IH morphology and anatomical location, complications and treatments were recorded and analyzed. RESULTS: In total, 153 patients with segmental IH and 1375 patients with nonsegmental IH were enrolled in this study. The average age on the day of the first visit in patients with segmental IH was 3.63±3.23 months. In 69 patients (45.10%), segmental IH was diagnosed at birth. Most segmental IHs (49.67%) occurred in the limbs, while only 22.04% of nonsegmental IHs occurred in the extremities (P<0.001). Thirteen patients (8.50%) with segmental IH had ulceration. Compared with patients with nonsegmental IHs, patients with segmental IHs were more likely to be treated with oral drugs (P<0.001). CONCLUSION: Segmental IHs mainly occur in the extremities and are frequently diagnosed at birth. Segmental IHs are usually accompanied by ulceration, which are more commonly seen in the neck and perineal/perianal/genital areas than nonsegmental IHs. Oral propranolol is prescribed more often in patients with segmental IH than in those with nonsegmental IH.

Subglottic hemangioma: Understanding the association with facial segmental hemangioma in a beard distribution.

OBJECTIVE: A subglottic hemangioma (SGH) is a benign tumor of infancy that can cause severe obstruction of the airway. Infantile hemangiomas, in general, are the most common head and neck tumor in children, affecting 4-5% of the pediatric population. This retrospective cohort study characterizes subglottic infantile hemangiomas at a single vascular anomaly center over a 5-year period (2013-2017) during the era of propranolol treatment. METHODS: Queried the Vascular Anomaly Database at Children's Hospital of Pittsburgh for all infantile hemangioma(s) and then identified case of subglottic hemangiomas. Characterized key features of presentation, natural history and management for subglottic hemangiomas. A secondary differentiation focused on differences between subglottic hemangiomas associated with Beard Distribution (BD) vs not (NBD). RESULTS: Analysis of 761 cases of infantile hemangiomas demonstrated only 13 patients with subglottic hemangiomas (1.7%). Of those 13 patients, only 4 patients (30%) had BD while 2 patients (15%) had other cutaneous hemangiomas and 7 patients (55%) had no cutaneous hemangiomas. Secondarily, a total of 31 case of beard distribution cutaneous hemangiomas with 11 patients having oropharyngeal involvement (35%) but only 4 patients with subglottic hemangiomas (13%). Interestingly, 2 of the 4 BD patients had treatment failure on propranolol and required second line treatment with steroids or surgical excision while only 1 of 9 NBD patients failed propranolol treatment. As well the same 2 BD patients which failed propranolol also had PHACES syndrome. CONCLUSION: Subglottic hemangiomas are a rare presentation of infantile hemangiomas but with significant morbidity. While the classic teaching that a segmental beard distribution hemangioma raises concern for a subglottic hemangioma, this cohort indicates subglottic hemangiomas occur in a NBD presentation (1.3%), and demonstrated only an approximate 10% incidence rate with a beard distribution. But more importantly, this study raises the question that beard distribution in setting of PHACES syndrome may herald a more recalcitrant and complicated natural history for a subglottic hemangioma. This is of significant concern as risk for CVA in setting of PHACES is highest with use of steroid treatment. None of our patients had high risk extra or intra cranial vascular arterial anomalies and no CVA were noted.

Use of intravenous propranolol for control of a large cervicofacial hemangioma in a critically ill neonate.

Cervicofacial segmental infantile hemangiomas (IH) may result in airway obstruction requiring use of propranolol to induce hemangioma regression and reestablish the airway. We present the first case using intravenous (IV) propranolol for control of airway obstruction and rapid expansion of cervicofacial IH in the setting of necrotizing enterocolitis (NEC) impaired gastrointestinal function. Intravenous dosing of propranolol was tolerated well in a critically ill neonate with multisystem complications of prematurity.