Vascular Malformations

Question 1

CLOVES syndrome. What does it stand for? What is the gene?

Answer 1

CLOVES is a mnemonic acronym for:
Congenital lipomatous overgrowth
Vascular malformations
Epidermal naevi
Spinal/skeletal anomalies/scoliosis.

PIK3CA

Question 2

Klippel-Trenaenay syndrome triad? Gene?

Answer 2

1. Capillary vascular malformation (port wine)
2. Venous malformation (varicose veins)
3. Limb hypertrophy (one extremity)

PIK3CA

Question 3

Diagnosis?

Answer 3

Sturge Weber:
1. Capillary malformation (port wine)
In v1, v2 trigeminal nerve distribution.

• 2° to somatic mosaic mutations in the GNAQ gene
• CM involving the frontonasal (forehead) placode (formerly V1—ophthalmic branch of trigeminal nerve) distribution (Fig. 4.15)
■ Only 5%–10% with a CM of the forehead will have SWS; more extensive often corresponds to increased risk
■ Soft tissue/skeletal hypertrophy often develop over time under the CM
• Ipsilateral leptomeningeal CM (angiomatosis) of the brain and eye
• Neurologic complications include seizures (usually develop in first year of life), developmental delay, intellectual disability, and focal neurologic deficits
■ Head CT = cortical calcifications that resemble “tram track lines”
• Ophthalmologic complications affect 60% (#1 is glaucoma)
• Clinical course depends on extent of leptomeningeal involvement
• Bilateral facial CMs involving forehead distribution = worst prognosis (↑ risk of seizures and more profound developmental delay)