Nervous System Diseases

Diseases and Abnormalities at or Before Birth

All Conditions

Neoplasms

Rare Diseases

Spinal Dysraphism

Hemangioma

Neural Tube Defects

Neoplasms, Vascular Tissue

Neoplasms by Histologic Type

Spina Bifida

Tethered Cord Syndrome

Dermatologic Agents

All Drugs and Chemicals

MRI of head and neck

Complete dermatological examination to identify and characterize nature of dermatological anomalies

Dermatological Examination

Cardiac examination

Abdominal ultrasound to detect hepatic hemangiomas

Abdominal ultrasound

Beth Drolet, MD

Maria Garzon, MD

Denise Metry, MD

Ilona Frieden, MD

Julie Powell, MD

Anne Lucky, MD

Sharon Glick, MD

Eulalia Baselga, MD

Anita Haggstrom, M.D.

Anthony Mancini, MD

Kimberly Horii, MD

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.

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.

Hemangioma Associated With High Rates of Morbidity

Hemangioma Associated With High Rates of Morbidity:A Prospective Study

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.

The number of lumbrosacral hemangioma subjects with confirmed spinal abnormalities detected via lumbrosacral MRI.

The number of PHACE subjects identified with cerebrovascular and/or structural brain abnormalities detected using MRI.

The number of subjects with clinically definite PHACE syndrome who were identified as having cardiac abnormalities following clinical examination.

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.

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

Professor and Vice Chair of Dermatology

Facial Hemangioma

Lumbosacral Hemangioma

Multiple Hemangiomas

Total

Age, Categorical

Age Continuous

Sex: Female, Male

United States

Region of Enrollment

Dr. Beth Drolet

All Participants

MRI/MRA of Head/Neck/Chest.

Subjects enrolled in the large facial hemangioma arm (n= 108) were analyzed for this outcome measure.

Clinical Diagnosis of PHACE Syndrome

Subjects enrolled in the lumbrosacral hemangioma arm (n= 48) were analyzed for this outcome measure

Spinal Abnormalities

Subjects diagnosed with clinically definite PHACE syndrome, enrolled in the large facial hemangioma arm (n= 33) were analyzed for this outcome measure.

Cerebrovascular and Structural Brain Abnormalities

Cardiac Abnormalities Detected Via Clinical Examination

Subjects enrolled in the hepatic hemangioma arm (n= 151) were analyzed for this outcome measure.

Frequency of Hepatic Hemangiomas Detected Via Abdominal Ultrasound

Overall Study

Spots Global Cancer Trial Database for occult spinal dysraphism