Birthmark Genoderms

Question 1

What are syndromes associated with w capillary malformations.

Answer 1

Usually an isolated cutaneous finding, but may be seen in many syndromes (Sturge-Weber syndrome [SWS], Klippel-Trenaunay syndrome [KTS], Parkes-Weber syndrome, Proteus, PTEN hamartoma syndromes, Cobb syndrome, Beckwith-Wiedemann syndrome, phakomatosis pigmentovascularis, and capillary malformation-arteriovenous malformation [CM-AVM])

Question 2

What is gene for Sturge-Weber syndrome (encephalotrigeminal angiomatosis)?

Answer 2

GNAQ gene

Question 3

When to think of sturge Weber syndrome?

Answer 3

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

Question 4

What is triad of sturge Weber?

Answer 4

1. Capillary malformation of forehead/nasal in trigeminal nerve distribution.
2. • 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”
3. • Ophthalmologic complications affect 60% (#1 is glaucoma)