Hemangioma
Conditions
Keywords
Hemangioma, PHACE, Lumbosacral hemangioma, Occult Spinal Dysraphism
Brief summary
We are conducting a study on the possible presence of PHACES in children with large facial hemangiomas and lumbosacral hemangiomas of infancy (hemangioma in the lower back) . With this study we hope to better understand the risk of this syndrome and to develop guidelines for its evaluation and management.
Detailed description
Large hemangiomas of the face can be associated with anomalies of the blood vessels of head and chest. The acronym PHACES indicates the association of Posterior fossa and other brain malformations, facial Hemangioma, Arterial anomalies, Coarctation of the aorta and other cardiac defects, Eye abnormalities and Sternal malformations. Study subjects will be recruited through the Pediatric Dermatology department in several cities. All patients age 0-1 year old of age, who present with large facial hemangioma (\>22 cm\^2) will be offered to participate in the study. Parents will be interviewed to obtain personal, medical, and family history. Patients will undergo standard of care evaluation for facial hemangioma with risk of PHACE syndrome. This includes skin, eye and neurological examination, photograph, magnetic resonance imaging (MRI) of head/neck/chest, and lab tests requiring samples of blood, urine or stool. No other tests will be performed for participating in the study. Lumbosacral hemangiomas of infancy (hemangioma in the lower back) can be associated with anomalies of the spine. Tethered cord syndrome indicates a condition caused by abnormally stretched spinal cord. Over time this condition can lead to neurological damage. Although often there are no symptoms until adulthood, it can become apparent during childhood. Common symptoms are: lower back pain, pain and weakness of the legs, walking problems, and bladder and bowel loss of control. Occult spinal dysraphism is the term used when the defect of the spine is hidden under normal skin. We noticed that infants with hemangioma in the lower back area are more inclined to present a hidden spine defect. Study subjects will be recruited through the Pediatric Dermatology departments in several cities. All patients age 0-18 year old of age, who present with lumbosacral hemangioma (\> 2.5 cm of diameter overlying the spine) will be offered to participate in the study. Parents will be interviewed to obtain personal, medical, and family history. Patients will undergo standard of care evaluation for lumbosacral hemangioma. This includes skin, neurological examination, photograph, magnetic resonance imaging (MRI) of the back, lab tests requiring samples of blood, urine or stool. No additional tests will be performed only for participating in the study.
Interventions
DEVICEMRI
MRI of the spine.
DEVICEMRI of head and neck
MRI of head and C-spine
OTHERDermatological Examination
Complete dermatological examination to identify and characterize nature of dermatological anomalies
OTHERCardiac examination
Complete cardiac examination
DEVICEAbdominal ultrasound
Abdominal ultrasound to detect hepatic hemangiomas
Sponsors
University of California, San Francisco
Columbia University
Baylor College of Medicine
St. Justine's Hospital
State University of New York - Downstate Medical Center
Children's Mercy Hospital Kansas City
Children's Hospital Medical Center, Cincinnati
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Medical College of Wisconsin
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
No
Inclusion criteria
Segmental Facial Hemangioma Inclusion criteria: * Infants less than 1 year of age * Hemangiomas of the head /facial area measuring 22cm2 or greater.
Exclusion criteria
* Children greater than 1 year of age. * Children with segmental hemangiomas present in locations other than the head. * Children presenting with localized (focal) or indeterminate hemangiomas in any location. * Children with other vascular tumors (such as tufted angioma, Kaposiform hemangioendothelioma, non-involuting congenital hemangioma or rapidly-involuting congenital hemangioma) or vascular malformations. Lumbosacral Hemangioma Inclusion criteria: * Individuals less than 18 years of age. * Hemangioma, hemangioma precursor, or definitive residual hemangioma larger then 2.5 cm in diameter, overlying the midline lumbar spine or sacral spine in which any portion of the hemangioma is located over the midline.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| MRI/MRA of Head/Neck/Chest. | 2 years | — |
| Clinical Diagnosis of PHACE Syndrome | 2 years | For subjects in the large facial hemangioma arm of the study, a clinical assessment by trained physicians was conducted to determine whether or not each subject met diagnostic criteria for PHACE syndrome. |
| Spinal Abnormalities | 2 years | The number of lumbrosacral hemangioma subjects with confirmed spinal abnormalities detected via lumbrosacral MRI. |
| Cerebrovascular and Structural Brain Abnormalities | 2 years | The number of PHACE subjects identified with cerebrovascular and/or structural brain abnormalities detected using MRI. |
| Cardiac Abnormalities Detected Via Clinical Examination | 2 years | The number of subjects with clinically definite PHACE syndrome who were identified as having cardiac abnormalities following clinical examination. |
| Frequency of Hepatic Hemangiomas Detected Via Abdominal Ultrasound | 2 years | The number of participants with multiple (greater than or equal to 5) cutaneous infantile hemangiomas who were found to have hepatic hemangiomas via the us abdominal ultrasound. |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Facial Hemangioma Patients with large facial hemangioma. | 108 |
| Lumbosacral Hemangioma Patients with lumbosacral hemangioma. | 48 |
| Multiple Hemangiomas Patients with multiple hemangiomas | 201 |
| Total | 357 |
Baseline characteristics
| Characteristic | Lumbosacral Hemangioma | Multiple Hemangiomas | Facial Hemangioma | Total |
|---|---|---|---|---|
| Age, Categorical <=18 years | 48 Participants | 201 Participants | 108 Participants | 357 Participants |
| Age, Categorical >=65 years | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Age, Categorical Between 18 and 65 years | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Age Continuous | 0.5 years STANDARD_DEVIATION 1 | 0.5 years STANDARD_DEVIATION 1 | 0.5 years STANDARD_DEVIATION 1 | 0.5 years STANDARD_DEVIATION 1 |
| Region of Enrollment United States | 48 participants | 201 participants | 108 participants | 357 participants |
| Sex: Female, Male Female | 33 Participants | 152 Participants | 78 Participants | 263 Participants |
| Sex: Female, Male Male | 15 Participants | 49 Participants | 30 Participants | 94 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk | EG002 affected / at risk |
|---|---|---|---|
| deaths Total, all-cause mortality | — / — | — / — | — / — |
| other Total, other adverse events | 0 / 108 | 0 / 48 | 0 / 201 |
| serious Total, serious adverse events | 0 / 108 | 0 / 48 | 0 / 201 |
Outcome results
Primary
Cardiac Abnormalities Detected Via Clinical Examination
The number of subjects with clinically definite PHACE syndrome who were identified as having cardiac abnormalities following clinical examination.
Time frame: 2 years
Population: Subjects diagnosed with clinically definite PHACE syndrome, enrolled in the large facial hemangioma arm (n= 33) were analyzed for this outcome measure.
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| All Participants | Cardiac Abnormalities Detected Via Clinical Examination | 22 Participants |
Primary
Cerebrovascular and Structural Brain Abnormalities
The number of PHACE subjects identified with cerebrovascular and/or structural brain abnormalities detected using MRI.
Time frame: 2 years
Population: Subjects diagnosed with clinically definite PHACE syndrome, enrolled in the large facial hemangioma arm (n= 33) were analyzed for this outcome measure.
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| All Participants | Cerebrovascular and Structural Brain Abnormalities | 31 Participants |
Primary
Clinical Diagnosis of PHACE Syndrome
For subjects in the large facial hemangioma arm of the study, a clinical assessment by trained physicians was conducted to determine whether or not each subject met diagnostic criteria for PHACE syndrome.
Time frame: 2 years
Population: Subjects enrolled in the large facial hemangioma arm (n= 108) were analyzed for this outcome measure.
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| All Participants | Clinical Diagnosis of PHACE Syndrome | 33 Participants |
Primary
Frequency of Hepatic Hemangiomas Detected Via Abdominal Ultrasound
The number of participants with multiple (greater than or equal to 5) cutaneous infantile hemangiomas who were found to have hepatic hemangiomas via the us abdominal ultrasound.
Time frame: 2 years
Population: Subjects enrolled in the hepatic hemangioma arm (n= 151) were analyzed for this outcome measure.
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| All Participants | Frequency of Hepatic Hemangiomas Detected Via Abdominal Ultrasound | 24 Participants |
Primary
MRI/MRA of Head/Neck/Chest.
Time frame: 2 years
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| All Participants | MRI/MRA of Head/Neck/Chest. | 357 participants |
Primary
Spinal Abnormalities
The number of lumbrosacral hemangioma subjects with confirmed spinal abnormalities detected via lumbrosacral MRI.
Time frame: 2 years
Population: Subjects enrolled in the lumbrosacral hemangioma arm (n= 48) were analyzed for this outcome measure
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| All Participants | Spinal Abnormalities | 21 Participants |