Society for Pediatric Dermatology (SPD): Annual Meeting

BALTIMORE – Preliminary data from a small study suggest that children with PHACE syndrome are at high risk for both motor and speech delay, and should be closely evaluated so that early interventions can be started to improve outcomes.

Dr. Anna M. Juern and her coinvestigators at the Children’s Hospital of Wisconsin in Milwaukee reported on 15 children with definite or probable PHACE syndrome in an ongoing, prospective study. PHACE syndrome affects a subgroup of patients with infantile hemangioma who exhibit additional associated structural anomalies of the brain (posterior fossa), cerebral vasculature, eyes, aorta, and chest wall. (PHACE is an acronym for posterior fossa, hemangioma, arterial lesions, cardiac abnormalities/aortic coarctation, and eye abnormalities.)

Despite improved clinical recognition of PHACE syndrome, longitudinal studies of outcome and natural history have never been conducted. A clear clinical gap exists in the ability of physicians to provide an informed prognosis to PHACE patients based on the specific types and numbers of anomalies detected at the time of diagnosis. Given the wide range of cerebrovascular and central nervous system anomalies observed in PHACE, these children have many potential causes of neurocognitive impairment, according to Dr. Juern, who is a resident at the hospital.

Recent research has suggested that this syndrome is more common than previously thought. Some children with PHACE do quite well, whereas others suffer from epilepsy, mental retardation, and devastating arterial ischemic strokes. Epilepsy, developmental delay, and recurrent headaches appear to be the most common neurologic signs and symptoms,

For their study, Dr. Juern and her colleagues "hypothesize that certain risk factors, such as hemangioma size, previous pharmacologic intervention, cerebral anomalies, cerebellar anomalies, and cerebrovascular anomalies predispose patients to neurodevelopmental delay."

In a poster presented at the annual meeting of the Society for Pediatric Dermatology, they reported that 13 of the 15 children enrolled in the study so far (including 14 with definite PHACE and 1 with probable PHACE) have required special services. More than 70% had prior physical therapy and participated in "Birth to 3," Wisconsin’s early intervention program. Half of the children are currently receiving speech therapy. On a test of fine motor skills using the dominant hand, a majority scored below average. In addition, more than half of the children scored in the below-average or borderline range on a computerized test of sustained attention; 40% of patients scored below average on a subtest assessing word structure.

The study cohort comprises 13 girls and 2 boys. The average age at the time of testing was 5 years (range, 4-6 years). "This age range represents a critical period, as it is the time [when most children] enter the formal education system and allows for a more thorough evaluation of neurocognitive skills than what is possible with younger children," according to Dr. Juern.

One patient had suffered an acute ischemic stroke during infancy, and two additional patients showing evidence of infarct on imaging. All patients received a systemic therapy for the treatment of their hemangiomas, such as interferon-alpha, corticosteroids, and vincristine.

The investigators are using a standardized electronic data collection form to record demographic data, clinical features, and dose and duration of therapy for infantile hemangioma. All children must undergo a standard evaluation (echocardiography, brain MRI, and MR angiography of the head and neck) prior to study enrollment. A pediatric dermatologist and a pediatric neurologist perform a physical exam, obtain a detailed medical history, and review all neuroimaging.

Patients also are administered standardized instruments by a pediatric psychologist to measure verbal reasoning; executive functioning; motor, attention, visual-spatial, and language skills; and verbal and nonverbal memory.

Dr. Juern did not report whether she has any relevant disclosures.

BALTIMORE – Preliminary data from a small study suggest that children with PHACE syndrome are at high risk for both motor and speech delay, and should be closely evaluated so that early interventions can be started to improve outcomes.

Dr. Anna M. Juern and her coinvestigators at the Children’s Hospital of Wisconsin in Milwaukee reported on 15 children with definite or probable PHACE syndrome in an ongoing, prospective study. PHACE syndrome affects a subgroup of patients with infantile hemangioma who exhibit additional associated structural anomalies of the brain (posterior fossa), cerebral vasculature, eyes, aorta, and chest wall. (PHACE is an acronym for posterior fossa, hemangioma, arterial lesions, cardiac abnormalities/aortic coarctation, and eye abnormalities.)

Despite improved clinical recognition of PHACE syndrome, longitudinal studies of outcome and natural history have never been conducted. A clear clinical gap exists in the ability of physicians to provide an informed prognosis to PHACE patients based on the specific types and numbers of anomalies detected at the time of diagnosis. Given the wide range of cerebrovascular and central nervous system anomalies observed in PHACE, these children have many potential causes of neurocognitive impairment, according to Dr. Juern, who is a resident at the hospital.

Recent research has suggested that this syndrome is more common than previously thought. Some children with PHACE do quite well, whereas others suffer from epilepsy, mental retardation, and devastating arterial ischemic strokes. Epilepsy, developmental delay, and recurrent headaches appear to be the most common neurologic signs and symptoms,

For their study, Dr. Juern and her colleagues "hypothesize that certain risk factors, such as hemangioma size, previous pharmacologic intervention, cerebral anomalies, cerebellar anomalies, and cerebrovascular anomalies predispose patients to neurodevelopmental delay."

In a poster presented at the annual meeting of the Society for Pediatric Dermatology, they reported that 13 of the 15 children enrolled in the study so far (including 14 with definite PHACE and 1 with probable PHACE) have required special services. More than 70% had prior physical therapy and participated in "Birth to 3," Wisconsin’s early intervention program. Half of the children are currently receiving speech therapy. On a test of fine motor skills using the dominant hand, a majority scored below average. In addition, more than half of the children scored in the below-average or borderline range on a computerized test of sustained attention; 40% of patients scored below average on a subtest assessing word structure.

The study cohort comprises 13 girls and 2 boys. The average age at the time of testing was 5 years (range, 4-6 years). "This age range represents a critical period, as it is the time [when most children] enter the formal education system and allows for a more thorough evaluation of neurocognitive skills than what is possible with younger children," according to Dr. Juern.

One patient had suffered an acute ischemic stroke during infancy, and two additional patients showing evidence of infarct on imaging. All patients received a systemic therapy for the treatment of their hemangiomas, such as interferon-alpha, corticosteroids, and vincristine.

The investigators are using a standardized electronic data collection form to record demographic data, clinical features, and dose and duration of therapy for infantile hemangioma. All children must undergo a standard evaluation (echocardiography, brain MRI, and MR angiography of the head and neck) prior to study enrollment. A pediatric dermatologist and a pediatric neurologist perform a physical exam, obtain a detailed medical history, and review all neuroimaging.

Patients also are administered standardized instruments by a pediatric psychologist to measure verbal reasoning; executive functioning; motor, attention, visual-spatial, and language skills; and verbal and nonverbal memory.

Dr. Juern did not report whether she has any relevant disclosures.

BALTIMORE – Preliminary data from a small study suggest that children with PHACE syndrome are at high risk for both motor and speech delay, and should be closely evaluated so that early interventions can be started to improve outcomes.

Dr. Anna M. Juern and her coinvestigators at the Children’s Hospital of Wisconsin in Milwaukee reported on 15 children with definite or probable PHACE syndrome in an ongoing, prospective study. PHACE syndrome affects a subgroup of patients with infantile hemangioma who exhibit additional associated structural anomalies of the brain (posterior fossa), cerebral vasculature, eyes, aorta, and chest wall. (PHACE is an acronym for posterior fossa, hemangioma, arterial lesions, cardiac abnormalities/aortic coarctation, and eye abnormalities.)

Despite improved clinical recognition of PHACE syndrome, longitudinal studies of outcome and natural history have never been conducted. A clear clinical gap exists in the ability of physicians to provide an informed prognosis to PHACE patients based on the specific types and numbers of anomalies detected at the time of diagnosis. Given the wide range of cerebrovascular and central nervous system anomalies observed in PHACE, these children have many potential causes of neurocognitive impairment, according to Dr. Juern, who is a resident at the hospital.

Recent research has suggested that this syndrome is more common than previously thought. Some children with PHACE do quite well, whereas others suffer from epilepsy, mental retardation, and devastating arterial ischemic strokes. Epilepsy, developmental delay, and recurrent headaches appear to be the most common neurologic signs and symptoms,

For their study, Dr. Juern and her colleagues "hypothesize that certain risk factors, such as hemangioma size, previous pharmacologic intervention, cerebral anomalies, cerebellar anomalies, and cerebrovascular anomalies predispose patients to neurodevelopmental delay."

In a poster presented at the annual meeting of the Society for Pediatric Dermatology, they reported that 13 of the 15 children enrolled in the study so far (including 14 with definite PHACE and 1 with probable PHACE) have required special services. More than 70% had prior physical therapy and participated in "Birth to 3," Wisconsin’s early intervention program. Half of the children are currently receiving speech therapy. On a test of fine motor skills using the dominant hand, a majority scored below average. In addition, more than half of the children scored in the below-average or borderline range on a computerized test of sustained attention; 40% of patients scored below average on a subtest assessing word structure.

The study cohort comprises 13 girls and 2 boys. The average age at the time of testing was 5 years (range, 4-6 years). "This age range represents a critical period, as it is the time [when most children] enter the formal education system and allows for a more thorough evaluation of neurocognitive skills than what is possible with younger children," according to Dr. Juern.

One patient had suffered an acute ischemic stroke during infancy, and two additional patients showing evidence of infarct on imaging. All patients received a systemic therapy for the treatment of their hemangiomas, such as interferon-alpha, corticosteroids, and vincristine.

The investigators are using a standardized electronic data collection form to record demographic data, clinical features, and dose and duration of therapy for infantile hemangioma. All children must undergo a standard evaluation (echocardiography, brain MRI, and MR angiography of the head and neck) prior to study enrollment. A pediatric dermatologist and a pediatric neurologist perform a physical exam, obtain a detailed medical history, and review all neuroimaging.

Patients also are administered standardized instruments by a pediatric psychologist to measure verbal reasoning; executive functioning; motor, attention, visual-spatial, and language skills; and verbal and nonverbal memory.

Dr. Juern did not report whether she has any relevant disclosures.