Hemangioma Associated With High Rates of Morbidity

Study Overview
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Brief Summary
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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
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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.

Official Title
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Hemangioma Associated With High Rates of Morbidity:A Prospective Study

Conditions
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Hemangioma

Intervention / Treatment
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* Device: MRI
* Device: MRI of head and neck
* Other: Dermatological Examination
* Other: Cardiac examination
* Device: Abdominal ultrasound


Participation Criteria
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Eligibility Criteria
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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. Exclusion Criteria: Excluding perirectal hemangiomas that do not extend onto the sacral spine. Excluding perineal hemangiomas that do extend to overlay the sacral spine.

Ages Eligible for Study
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Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Screening
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Facial Hemangioma<br>Patients with large facial hemangioma. | Device: MRI of head and neck<br>* MRI of head and C-spine<br>Other: Dermatological Examination<br>* Complete dermatological examination to identify and characterize nature of dermatological anomalies<br>* Other names: Clinical dermatological examination;Other: Cardiac examination<br>* Complete cardiac examination<br>* Other names: Cardiovascular examination;|
| Other: Lumbosacral Hemangioma<br>Patients with lumbosacral hemangioma. | Device: MRI<br>* MRI of the spine.<br>Other: Dermatological Examination<br>* Complete dermatological examination to identify and characterize nature of dermatological anomalies<br>* Other names: Clinical dermatological examination;|
| Other: Multiple Hemangiomas<br>patients with multiple hemangiomas (>5) | Device: MRI<br>* MRI of the spine.<br>Other: Dermatological Examination<br>* Complete dermatological examination to identify and characterize nature of dermatological anomalies<br>* Other names: Clinical dermatological examination;Device: Abdominal ultrasound<br>* Abdominal ultrasound to detect hepatic hemangiomas<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| MRI/MRA of Head/Neck/Chest. |  | 2 years | 
| 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. | 2 years | 
| Spinal Abnormalities | The number of lumbrosacral hemangioma subjects with confirmed spinal abnormalities detected via lumbrosacral MRI. | 2 years | 
| Cerebrovascular and Structural Brain Abnormalities | The number of PHACE subjects identified with cerebrovascular and/or structural brain abnormalities detected using MRI. | 2 years | 
| 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. | 2 years | 
| 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. | 2 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Hemangioma, PHACE, Lumbosacral hemangioma, Occult Spinal Dysraphism