Kasabach-Merritt Syndrome

This rare syndrome appears in infants with a rare type of vascular tumor called a Kaposiform that triggers "platelet trapping" leading to thrombocytopenia (low blood platelets), anemia (low number of red blood cells) and an activation and consumption of coagulation factors.  The diagnosis is generally made with blood tests and imaging techniques such as ultrasound or MRI.  Current treatments include steroids or interferon.

Venous Malformations

What are they?
Venous malformations are generally sporadic congenital anomalies of the veins usually presenting at birth.  They can occur anywhere in the body, but are commonly in the head and neck.  They are usually felt as a lump under the skin and can appear blue to purple in color.  If compressed, these lumps may "empty," and can increase in size with activity.  The malformations can sometimes be associated with other syndromes.

Diagnosis
Diagnosis is made by clinical examination and imaging techniques such as ultrasound, CT, and MRI.

Treatment
Venous malformations are generally treated conservatively if they do not cause pain or interference with function.  Treatment options for lesions causing pain or interference with function include sclerotherapy (injecting medicines such as ethanol, Ethibloc, doxycycline bleomycin and sodium tetradcyl sulphate which causes the lesion to shrink), surgical resection, and surgical resection after sclerotherapy.

Klippel-Trenaunay Syndrome

Klippel-Trenaunay syndrome involves one or both legs, or one or both arms with a noticeable port wine stain of the skin and sometime a size difference in the affected leg or arm.  This is usually noted at birth.  The diagnosis can be made through history and physical examination, and imaging techniques including MRI.  Treatment is generally conservative and based on the patient's symptoms.  Possible treatment options include compression garments, anticoagulant therapy, and possible orthopedic procedures.

Lymphatic Malformations

What are they?
Lymphatic malformations (LMs) are dilated lympatic channels.  These are congenital anomalies that arise from defective embryological development.  LMs are soft masses with normal over lying skin filled with proteinaceous fluid.  LMs usually appear at birth or early childhood.

Diagnosis
LMs can now be diagnosed by prenatal ultrasound and even fetal MRI.  MRI imaging after birth will allow detailed information about treatment and extent.

Treatment
The treatments of choice for LMs are surgical removal and sclerotherapy.  Sclerotherapy is a procedure in which a medicine is injected into the LM, causing it to scar and shrink.

Hemangiomas

What are they?

Hemangiomas are the most common benign tumors of infancy.  They are composed of an abnormal collection of extra blood vessels in the skin or internal organs.  Hemangiomas (infantile hemangomas or hemangiomas of infancy) can appear as a bright red patch on the skin and have been referred to as "strawberry hemangiomas" in the past.  Others can grown in internal organs such as the liver or larynx.

Diagnosis

Hemangiomas usually first appear in the first few weeks of life and are usually diagnosed clinically.

Treatment

Some hemangiomas are small and require no treatment.  They are allowed to run their natural course and disappear over time (usually by 10 years of age).  Some hemangiomascan cause life-threatening problems based on their size and location (head and neck). Many facial hemangiomas will require treatment to prevent later disfiguration.  Problematic hemangiomas are treated very effectively with a medicine called Propranolol. Other treatment options include topical propranolol-like gel, steroids, vincristine and laser treatments.  Reconstructive surgery is often necessary for facial and/or large hemangiomas after involution.  

Arterio-Venous Malformations

What are they?
Normally, blood flows from the hearth through the arteries, which drain into capillaries and supply oxygen to the body.  The blood then comes back to the heart in veins.  In Arterio-Venous Malformations (AVMs), there are connections or shunt directly between arteries and veins without the intervening capillary network.

Diagnosis
AVMs are usually detected at birth and are often diagnosed using imaging techniques such as ultrasound, CT, MRI, MRA, and angiography.

Treatment
Because of their size and location, surgical resection is often very difficult and can be quite extensive.  Angiography and embolization with particulate and liquid embolic agents can be effective alone or in conjunction with surgery.