Hemangioma Associated With High Rates of Morbidity

Not Applicable

Completed

Conditions: Hemangioma

Interventions: Device: MRI
Device: MRI of head and neck
Other: Dermatological Examination
Other: Cardiac examination
Device: Abdominal ultrasound

Registration Number: NCT00394888

Lead Sponsor: Medical College of Wisconsin

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.

Recruitment & Eligibility

Status: COMPLETED

Sex: All

Target Recruitment: 433

Inclusion Criteria

Not provided

Exclusion Criteria

Excluding perirectal hemangiomas that do not extend onto the sacral spine.
Excluding perineal hemangiomas that do extend to overlay the sacral spine.

Study & Design

Study Type: INTERVENTIONAL

Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Lumbosacral Hemangioma	MRI	Patients with lumbosacral hemangioma.
Facial Hemangioma	MRI of head and neck	Patients with large facial hemangioma.
Facial Hemangioma	Dermatological Examination	Patients with large facial hemangioma.
Facial Hemangioma	Cardiac examination	Patients with large facial hemangioma.
Lumbosacral Hemangioma	Dermatological Examination	Patients with lumbosacral hemangioma.
Multiple Hemangiomas	MRI	patients with multiple hemangiomas (\>5)
Multiple Hemangiomas	Dermatological Examination	patients with multiple hemangiomas (\>5)
Multiple Hemangiomas	Abdominal ultrasound	patients with multiple hemangiomas (\>5)

Primary Outcome Measures

Name	Time	Method
MRI/MRA of Head/Neck/Chest.	2 years
Spinal Abnormalities	2 years	The number of lumbrosacral hemangioma subjects with confirmed spinal abnormalities detected via lumbrosacral MRI.
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.
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.
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.