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Brief Title: Hemangioma Associated With High Rates of Morbidity
Official Title: Hemangioma Associated With High Rates of Morbidity:A Prospective Study
Study ID: NCT00394888
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.
Minimum Age:
Eligible Ages: CHILD, ADULT
Sex: ALL
Healthy Volunteers: No
Beth Drolet, MD, Milwaukee, Wisconsin, United States
Name: Beth Drolet, MD
Affiliation: Medical College of Wisconsin
Role: PRINCIPAL_INVESTIGATOR
Name: Maria Garzon, MD
Affiliation: Columbia University
Role: PRINCIPAL_INVESTIGATOR
Name: Denise Metry, MD
Affiliation: Baylor College of Medicine
Role: PRINCIPAL_INVESTIGATOR
Name: Ilona Frieden, MD
Affiliation: University of California, San Francisco
Role: PRINCIPAL_INVESTIGATOR
Name: Julie Powell, MD
Affiliation: Hopital Sainte-Justine
Role: PRINCIPAL_INVESTIGATOR
Name: Anne Lucky, MD
Affiliation: Children's Hospital of Cincinnati
Role: PRINCIPAL_INVESTIGATOR
Name: Sharon Glick, MD
Affiliation: State University of New York - Downstate Medical Center
Role: PRINCIPAL_INVESTIGATOR
Name: Eulalia Baselga, MD
Affiliation: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Role: PRINCIPAL_INVESTIGATOR
Name: Anita Haggstrom, M.D.
Affiliation: Indiana University
Role: PRINCIPAL_INVESTIGATOR
Name: Anthony Mancini, MD
Affiliation: Northwestern University
Role: PRINCIPAL_INVESTIGATOR
Name: Kimberly Horii, MD
Affiliation: Children's Mercy Hospital Kansas City
Role: PRINCIPAL_INVESTIGATOR