Cerebral and cervical arterial abnormalities are the most common non-cutaneous anomaly in PHACE syndrome, but the location and type of arterial lesions that occur have not been systematically ...assessed in a large cohort. Our aim was to characterize the phenotypic spectrum of arteriopathy, assess the frequency with which different arteries are involved, and evaluate spatial relationships between arteriopathy, brain structural lesions, and hemangiomas in PHACE syndrome.
Intracranial MRA and/or CTA images from 70 children and accompanying brain MR images in 59 patients with arteriopathy and PHACE syndrome were reviewed to identify the type and location of arterial lesions and brain abnormalities. Five categories of arteriopathy were identified and used for classification: dysgenesis, narrowing, nonvisualization, primitive embryonic carotid-vertebrobasilar connections, and anomalous arterial course or origin. Univariate logistic regression analyses were performed to test for associations between arteriopathy location, hemangiomas, and brain abnormalities.
By study design, all patients had arterial abnormalities, and 57% had >1 form of arteriopathy. Dysgenesis was the most common abnormality (56%), followed by anomalous course and/or origin (47%), narrowing (39%), and nonvisualization (20%). Primitive embryonic carotid-vertebrobasilar connections were present in 20% of children. Hemangiomas were ipsilateral to arteriopathy in all but 1 case. The frontotemporal and/or mandibular facial segments were involved in 97% of cases, but no other specific associations between arteriopathy location and hemangioma sites were detected. All cases with posterior fossa anomalies had either ICA anomalies or persistent embryonic carotid-basilar connections.
The arteriopathy of PHACE syndrome commonly involves the ICA and its embryonic branches, ipsilateral to the cutaneous hemangioma, with dysgenesis and abnormal arterial course the most commonly noted abnormalities. Brain abnormalities are also typically ipsilateral.
Objectives To characterize demographic, prenatal, and perinatal features of patients with infantile hemangiomas and to determine the importance of these factors in predicting rates of complication ...and treatment. Study design We conducted a prospective study at 7 U.S. pediatric dermatology clinics. A consecutive sample of 1058 children, aged 12 years and younger, with infantile hemangiomas was enrolled between September 2002 and October 2003. A standardized questionnaire was used to collect demographic, prenatal, perinatal, and hemangioma-specific data. National Vital Statistic System Data (NVSS) was used to compare demographic variables and relevant rates of prenatal events. Results In comparison with the 2002 United States National Vital Statistics System birth data, we found that infants with hemangiomas were more likely to be female, white non-Hispanic, premature ( P < .0001) and the product of a multiple gestation (10.6% versus 3.1%; P < .001). Maternal age was significantly higher ( P < .0001), and placenta previa (3.1%) and pre-eclampsia (11.8%) were more common. Conclusions Infants with hemangiomas are more likely to be female, white non-Hispanic, premature, and products of multiple gestations. Prenatal associations include older maternal age, placenta previa, and pre-eclampsia. No demographic, prenatal, and perinatal factors predicted higher rates of complications or need for treatment.
Objective To identify clinical features of infants with ulcerated infantile hemangiomas. Study design Cross-sectional analysis was conducted within a prospective cohort study of children with ...infantile hemangiomas. Children younger than 12 years of age were recruited. Demographic and prenatal/perinatal information was collected. Hemangioma size, location, subtype, course, complications, and treatments were recorded. Results One thousand ninety-six patients were enrolled, and 173 (15.8%) patients experienced ulceration. Ulceration occurred in 192 (9.8%) of 1096 total hemangiomas. Hemangiomas with ulcerations were more likely large, mixed clinical type, segmental morphologic type, and located on the lower lip, neck, or anogenital region. Ulceration occurred at a median age of 4 months, most often during the proliferative phase. Children with ulcerated hemangiomas were more likely to present to a pediatric dermatologist at a younger age and to require treatment. Bleeding occurred in 41% of ulcerated lesions but was rarely of clinical significance. Infection occurred in 16%. Conclusions Ulceration occurs in nearly 16% of patients with infantile hemangiomas, most often by 4 months of age, during the proliferative phase. Location, size, and clinical and morphologic type are associated with an increased risk for development of ulceration.
The many faces of PHACE syndrome Metry, Denise W.; Dowd, Christopher F.; Barkovich, A.James ...
The Journal of pediatrics,
07/2001, Letnik:
139, Številka:
1
Journal Article
Recenzirano
Objectives: PHACE is an acronym coined to describe a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, large facial hemangiomas, arterial anomalies, ...cardiac anomalies and aortic coarctation, and eye abnormalities. We evaluated the spectrum of disease and significance of potential underlying brain anomalies among affected children. Study design: The records of 14 patients with PHACE syndrome, evaluated between 1995 and 2000, were retrospectively reviewed. A literature review revealed 116 additional cases. Results: PHACE syndrome represents a spectrum of anomalies, because most affected children have only one extracutaneous manifestation. The syndrome is associated with a high incidence of arterial and structural central nervous system anomalies with secondary neurologic sequelae. The potential for progressive neurovascular disease also exists among those patients with anomalous vasculature. Conclusion: PHACE syndrome should be considered in any infant presenting with a large, segmental, plaque-type facial hemangioma. Children at risk should receive careful ophthalmologic, cardiac, and neurologic assessment. (J Pediatr 2001;139:117-23)
Objective To prospectively evaluate a cohort of patients with infantile hemangioma in the midline lumbosacral region for spinal anomalies to determine the positive predictive value of infantile ...hemangioma for occult spinal anomalies and to make evidence-based recommendations for screening. Study design A multicenter prospective cohort study was performed at 9 Hemangioma Investigator Group sites. Results Intraspinal abnormalities were detected in 21 of 41 study participants with a lumbosacral infantile hemangioma who underwent a magnetic resonance imaging evaluation. The relative risk for all patients with lumbosacral infantile hemangiomas for spinal anomalies was 640 (95% confidence interval CI, 404-954), and the positive predictive value of infantile hemangioma for spinal dysraphism was 51.2%. Ulceration of the hemangioma was associated with a higher risk of having spinal anomalies. The presence of additional cutaneous anomalies also was associated with a higher likelihood of finding spinal anomalies; however, 35% of the infants with isolated lumbosacral infantile hemangiomas had spinal anomalies, with a relative risk of 438 (95% CI, 188-846). The sensitivity for ultrasound scanning to detect spinal anomalies in this high-risk group was poor at 50% (95% CI, 18.7%-81.3%), with a specificity rate of 77.8% (95% CI, 40%-97.2%). Conclusions Infants and children with midline lumbosacral infantile hemangiomas are at increased risk for spinal anomalies. Screening magnetic resonance imaging is recommended for children with these lesions.
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.
Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis are the most severe cutaneous reactions that occur in children. Off-label use of human intravenous immunoglobulin (IVIG) has been ...reported in a number of autoimmune and cell-mediated blistering disorders of the skin, including severe cutaneous drug reactions. We review 28 previous reports in which IVIG was used in pediatric patients with SJS and toxic epidermal necrolysis and discuss our experience in 7 children with SJS, in whom no new blisters developed within 24 to 48 hours after IVIG administration and rapid recovery ensued. IVIG seems to be a useful and safe therapy for children with severe cutaneous drug reactions. Well-controlled, prospective, multicenter clinical trials are needed to determine optimal dosing guidelines and to compare the efficacy and safety of IVIG with other potentially effective modalities.
Nevirapine is a non-nucleoside reverse transcriptase inhibitor widely used in combination with other antiretroviral agents for the treatment of HIV infection. Severe rash, including the ...Stevens-Johnson syndrome (SJS), is the major toxicity of nevirapine and is described in the package labeling with a prominent, boxed warning. Though physicians treating large populations of patients with HIV are well aware of this complication, only one other report of nevirapine-associated SJS has been documented in the dermatology literature. We describe 2 cases of SJS related to nevirapine use and review the literature on this newly recognized association. (J Am Acad Dermatol 2001;44:354-7.)
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