Question

What are the abnormalities associated with infantile haemangioma and PHACE syndrome?

1) Posterior intracranial fossa abnormalities
2) Haemangioma
3) Aortic and arterial abnormalities
4) Cardiac abnormalities (valvular atresia, VSD, Cor triatum)
5) Eye abnormalities (colobma, glaucoma, cataracts)
6) Sternal defects

Answer 1

Infantile haemangioma is a benign vascular tumor that can result in red or purple raised lesions on the skin in infants. PHACE syndrome is a neurocutaneous syndrome associated with various abnormalities, including posterior intracranial fossa abnormalities, aortic and arterial abnormalities, cardiac abnormalities, eye abnormalities, and sternal defects.

Step-by-step explanation:

Infantile haemangioma is a type of benign vascular tumor that occurs in infants. It is characterized by the proliferation of endothelial cells that form blood vessels, leading to the development of a red or purple raised lesion on the skin. On the other hand, PHACE syndrome is a neurocutaneous syndrome that is associated with various abnormalities, including:

1. Posterior intracranial fossa abnormalities: These include malformations in the posterior part of the cranial vault, such as Dandy-Walker malformation or cerebellar hypoplasia.
2. Aortic and arterial abnormalities: Coarctation of the aorta, which is a congenital narrowing of the aorta, can occur in individuals with PHACE syndrome.
3. Cardiac abnormalities: This may include valvular atresia, ventricular septal defect (VSD), or cor triatum, which is a rare congenital heart defect.
4. Eye abnormalities: Coloboma, glaucoma, and cataracts are some of the eye abnormalities observed in PHACE syndrome.
5. Sternal defects: Some individuals with PHACE syndrome may have sternal defects, such as sternal cleft or fused ribs.