Infantile hemangioma affecting the iris.

An infant girl developed a hemangioma affecting her left iris concurrently with diffuse cutaneous infantile hemangiomas from day 2 of life. Intraocular hemangiomas are rarely reported and are usually associated with neonatal hemangiomatosis, the presence of which indicates a high risk for visceral lesions. This striking case highlights the unusual clinical presentation of iris hemangioma and demonstrates the importance of conducting visceral screening when faced with these lesions. Oral propranolol was commenced and resulted in rapid improvement of all lesions without complication.

A Consensus on Minimizing the Risk of Hyaluronic Acid Embolic Visual Loss and Suggestions for Immediate Bedside Management.

BACKGROUND: Hyaluronic acid fillers have a satisfactory safety profile. However, adverse reactions do occur, and rarely intravascular injection may lead to blindness. Currently there is no internationally recognized consensus on the prevention or management of blindness from hyaluronic acid filler. OBJECTIVES: The authors sought to give guidance on how to minimize the risk and optimize the management of this rare but catastrophic adverse reaction. METHODS: A multinational group of experts in cosmetic injectables from multiple disciplines convened to review current best practice and develop updated consensus recommendations for prevention and bedside intervention if visual loss occurs after cosmetic injection of hyaluronic acid filler. RESULTS: The consensus group provided specific recommendations focusing on the consenting process, prevention, and early management of visual impairment related to intravascular hyaluronic acid filler injection. CONCLUSIONS: Although visual loss due to filler injections is rare, it is important that both patient and physician be aware of this risk. In this paper the authors describe methods and techniques available to reduce the risk and also document suggested initial management should a clinician find themselves in this situation.

Retrospective review of screening for Sturge-Weber syndrome with brain magnetic resonance imaging and electroencephalography in infants with high-risk port-wine stains.

BACKGROUND: There is a lack of consensus regarding how best to screen children with facial port-wine stains for Sturge-Weber syndrome. Many favor brain magnetic resonance imaging, and adjunctive electroencephalography is increasingly used. However, the sensitivity, specificity, and negative and positive predictive value of magnetic resonance imaging and electroencephalography and whether screening improves seizure recognition is unclear. METHODS: A retrospective review of children with high-risk port-wine stains presenting consecutively to the outpatient laser clinic of a tertiary pediatric hospital between December 2015 and November 2016 was undertaken. Primary outcome measures were yield, accuracy, age of and protocols for screening magnetic resonance imaging and electroencephalography, type of and age at presenting seizure, and percentage referred to neurology. RESULTS: Of 126 patients with facial port-wine stains, 25.4% (32/126) were at high risk of Sturge-Weber syndrome (hemifacial, median, and forehead PWS phenotypes); 43.7% of these (14/32) underwent screening magnetic resonance imaging. Sturge-Weber syndrome was detected in 7.1% (1/14). Magnetic resonance imaging had false-negative results in 23.1% (3/13) of those screened. Screening magnetic resonance imaging had sensitivity of 25%, specificity of 100%, positive predictive value of 100%, and negative predictive value of 76.9% for the detection of Sturge-Weber syndrome (hemifacial, median and forehead PWS phenotypes). Only one-third of those with false-negative magnetic resonance imaging were referred to neurology. Mean age of first seizure in those with false-negative screening magnetic resonance imaging was 28 months, vs 14 months in those not screened. Abnormal electroencephalographic signs were detected in the two infants who underwent presymptomatic electroencephalography. CONCLUSIONS: Findings from this small cohort of individuals with port-wine stains that put them at high risk of Sturge-Weber syndrome suggest that children with positive screening magnetic resonance imaging will almost certainly develop Sturge-Weber syndrome but that negative screening magnetic resonance imaging cannot exclude Sturge-Weber syndrome (in up to 23.1% of cases). False-negative magnetic resonance imaging may delay seizure recognition. Seizure education, monitoring, and consideration of adjunctive electroencephalography are important irrespective of magnetic resonance imaging findings.

Screening for Sturge-Weber syndrome: A state-of-the-art review.

Infants with a high-risk distribution of port-wine stains are commonly screened for Sturge-Weber syndrome using brain magnetic resonance imaging. There is no consensus about which port-wine stain phenotypes to screen, optimal timing, screening sensitivity, or whether presymptomatic diagnosis improves neurodevelopmental outcomes. This state-of-the-art review examines the evidence in favor of screening for Sturge-Weber syndrome, based on its effect on neurodevelopmental outcomes, against the risks and limitations of screening magnetic resonance imaging and electroencephalography. A literature search of PubMed/MEDLINE was conducted between January 2005 and May 2017 using key search terms. Relevant articles published in English were reviewed; 34 articles meeting the search criteria were analyzed according to the following outcome measures: neurodevelopmental outcome benefit of screening, diagnostic yield, financial costs, procedural risks, and limitations of screening magnetic resonance imaging and electroencephalography. There is no evidence that a presymptomatic Sturge-Weber syndrome diagnosis with magnetic resonance imaging results in better neurodevelopmental outcomes. The utility of electroencephalographic screening is also unestablished. In Sturge-Weber syndrome, neurodevelopmental outcomes depend on prompt recognition of neurologic red flags and early seizure control. Small numbers and a lack of prospective randomized controlled trials limit these findings. For infants with port-wine stain involving skin derived from the frontonasal placode (forehead and hemifacial phenotypes), we recommend early referral to a pediatric neurologist for parental education, counselling, and monitoring for neurologic red flags and seizures and consideration of electroencephalography regardless of whether magnetic resonance imaging is performed or its findings.

Infantile Hemangioma with Minimal or Arrested Growth: Further Observations on Clinical and Histopathologic Findings of this Unique but Underrecognized Entity.

BACKGROUND: Infantile hemangioma (IH) with minimal or arrested growth (IH-MAG) is becoming increasingly recognized in the literature. It is important to be aware of their existence, because the correct diagnosis is essential for prognostication and treatment and, in the case of facial segmental lesions, the direction of further investigations if PHACE (posterior fossa abnormalities and other structural brain abnormalities; hemangioma(s) of the cervical facial region; arterial cerebrovascular anomalies; cardiac defects, aortic coarctation, and other aortic abnormalities; eye anomalies) syndrome or Sturge-Weber syndrome is suspected. Although the clinical and histologic characteristics of IH-MAG resemble capillary malformations, positive GLUT-1 status is a delineating feature. METHODS: We reviewed nine cases of infants who presented after 2000 with birthmarks showing unique clinical features suggestive of a special variant of IHs. All patients had serial photographs taken demonstrating resolution of the birthmark over time. Five of these cases had skin biopsy performed, all of which confirmed GLUT-1 positivity. RESULTS: This photographic series of IH-MAG demonstrates their unique clinical, histologic, and immunochemistry features. They were nearly fully formed at birth, and their common clinical features included telangiectasia, venules, and matte erythema with light and dark areas. Spontaneous resolution over time without cosmetic disfigurement was the observed natural history in the majority of cases. CONCLUSION: IH-MAG is a unique clinical subset of hemangioma for which close observation is the preferred treatment. When in doubt, a biopsy for histology and GLUT-1 status may be needed to confirm the diagnosis before embarking on unnecessary laser treatment or medical interventions.

Use of propranolol for treatment of infantile haemangiomas in an outpatient setting.

INTRODUCTION: Propranolol has recently emerged as an effective drug treatment for infantile haemangiomas. The side effect profile of the drug and the safety of administering propranolol in outpatient settings in this age group remain uncertain. We report our experience with 200 infants and children prescribed propranolol to treat infantile haemangiomas, including 37 patients considered to have a poor response to treatment. METHOD: Patients were prescribed propranolol (1 mg/kg/dose bd) as outpatients at the Vascular Anomalies Service at the Royal Children's Hospital, Melbourne. RESULTS: The median age at commencement was 4 months (range 5 days-7 years). Twenty patients were older than 12 months at commencement. The median duration of treatment was 8 months. About 80% of treated haemangiomas were on the face. Approximately 50% of patients were considered to have an excellent response, 30% to have a good response and 20% to have a poor response. All segmental facial haemangiomas responded well. In contrast, 25% of focal facial haemangiomas responded poorly. Sleep disturbance was the most common side effect. Gross motor abnormalities including delayed walking were observed in 13 patients. CONCLUSION: Propranolol appears to be an effective treatment for infantile haemangiomas, particularly large segmental facial lesions. A poor response was seen in 20% of patients. Treatment has been provided in an outpatient setting without major complications and with excellent parental compliance. The side effect profile appears to be favourable, but further follow-up is required to identify unexpected long-term side effects.

Long-pulsed Nd:YAG laser treatment of venous lakes: report of a series of 34 cases.

BACKGROUND: Some venous lakes do not respond well to traditional vascular lasers. The Nd:YAG laser output at 1,064 nm is less well absorbed by hemoglobin but penetrates more deeply into tissue. OBJECTIVE: This study was undertaken to assess the effectiveness of the long-pulsed Nd:YAG on venous lakes. METHODS: Thirty-five consecutive adult patients presenting with a venous lake were studied. Four patients had failed to respond to polidocanol 1% sclerotherapy, and 1 patient to pulsed dye laser. Long-pulsed Nd:YAG was administered via a water-cooled tip. Either a 3-mm spot at 250 J/cm(2) and 55 ms or a 5-mm spot at 140 to 180 J/cm(2) was used depending on the size of the lesion. Clinical end points were characterized by hardening of the lesion, central blackening, minimal whitening of the periphery, and in most cases, an audible popping sound. Responses were assessed visually in 50% of cases or by phone contact in the remaining 50% if the lesion had completely disappeared. One patient was lost to follow-up. RESULTS: After a single treatment, 94% cleared completely; incomplete clearance occurred in 6%. There were no reported complications. CONCLUSIONS: The long-pulsed Nd:YAG laser is highly effective treatment for venous lakes of the lip and cheeks.

Segmental haemangioma of infancy of the lower limb with skeletal overgrowth.

A female infant presented at 3 months of age with vascular lesions involving the left lower limb and left side of the vulva. At birth, the left leg was thinner than the right, but equal in length. She had macular, reticulate, bluish discolouration covering most of the skin of the involved leg with superimposed cherry-red papules, most dense over the proximal portion. The macular component showed evidence of improvement within the first few months of life. Papular and nodular components over the leg and the vulva progressively increased in size and thickness until the age of 10 months. These elements had the appearance and behaviour typical of haemangioma of infancy. Regression of these lesions started at the age of 15 months. By the age of 6.5 months, the involved leg was no longer thinner than the right, but the left leg and foot had grown longer. Leg length discrepancy peaked at 2.4 cm at the age of 2 years. The most rapid phase of relative growth discrepancy of left and right leg bones was contemporaneous with the growth phase of the haemangioma. Radiological investigations and histopathology have been consistent with haemangioma of infancy. GLUT-1 immunostaining of the lesion was positive.