What does Phaces mean?
PHACE (sometimes also called PHACE association, PHACES syndrome, PHACES association or Pascual-Castroviejo type II syndrome) is an associated collection of disorders characterized by a large infantile hemangioma (benign tumor, presenting as a strawberry mark) on a child’s face, scalp and neck, together with a …
How is PHACE syndrome diagnosed?
How is PHACE syndrome diagnosed?
- Magnetic resonance imaging (MRI)
- Magnetic resonance angiography of the brain (MRA)
- Echocardiogram (echo) or electrocardiogram (EKG) of the heart.
- Eye exam by an ophthalmologist (eye doctor)
- Hearing test.
What is Supraumbilical raphe?
Definition. An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button). [
What is face syndrome?
What is FACES syndrome? FACES syndrome , also known as Friedman-Goodman syndrome, is a condition that is characterized by unique Facial features, Anorexia, Cachexia (body wasting) and Eye and Skin lesions. The pattern of inheritance and underlying genetic cause of FACES syndrome has not yet been established.
Is Phaces syndrome genetic?
We hypothesize that PHACE is a genetic disorder, caused by somatic mutations, likely in cancer genetic pathways. Identification of the genetic etiology will lead to improved diagnosis in PHACE syndrome and development of targeted therapies for IH and related congenital anomalies.
What is a segmental hemangioma?
IH of “segmental” morphology, are clusters of hemangiomas with a configuration involving a broad anatomic territory of skin. They are the least common of all types and generally larger than regular hemangiomas, morphologically characterized as plaque-like lesions.
How many cases of PHACE syndrome are there?
Over 300 cases of PHACE syndrome have been reported, and it is cconsidered one of the most common neurocutaneous vascular disorders in childhood.
What is a sternal cleft?
Sternal cleft is a chest wall malformation that can expose mediastinal viscera and vessels to injuries. It can be classified into two forms, complete and partial. Its etiology and incidence are unknown and it is often associated with other defects.
What is Freeman Sheldon Syndrome?
Freeman-Sheldon syndrome (also known as Freeman-Burian syndrome) is a condition that primarily affects muscles in the face and skull (craniofacial muscles) and can often affect joints in the hands and feet.
What is aarskog Scott syndrome?
Aarskog–Scott syndrome is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. This condition mainly affects males, although females may have mild features of the syndrome.
What is the best treatment for hemangioma?
Beta blocker drugs. In small, superficial hemangiomas, a gel containing the drug timolol may be applied to the affected skin. A severe infantile hemangioma may disappear if treated with an oral solution of propranolol. Treatment usually needs to be continued until about 1 year of age.
Can hemangiomas be removed?
Hemangiomas can be removed with surgery or by using laser treatment. Both procedures are safe and effective. In many cases laser treatment is preferable because it does not typically leave a scar.