- Screen any child with a PWS that involves the forehead (see diagrams below).
- The distribution of facial PWS follows the embryological vasculature of the face rather than the trigeminal nerve distribution.
- A triad of a dermal capillary malformation of the face (port-wine stain), ipsilateral central nervous system vascular malformation, and vascular malformation of the choroid plexus of the eye associated with glaucoma.
- A point mutation is usually found in guanine nucleotide-binding protein G(q) subunit alpha (GNAQ) in skin pws and brain tissue in Sturge-Weber Syndrome.
- Computed tomography scan will reveal the classic tram-track calcifications of the pia mater and atrophy of the cerebral cortex.
- Magnetic resonance imaging with contrast is performed to detect malformations in the ocular and pia mater vasculature. MRI is the preferred mode of central nervous system evaluation.
A post wine stain present at birth involving some part of the forehead is seen. The old idea that the PWS must involve the ophthalmic division of trigeminal nerve territory involvement in SWS should be abandoned. The PWSs of SWS in some way include the forehead (see diagrams below) [BJD 2014;171;4; 861–867], but specific patterns of distribution are being identified (see also below) [JAAD March 2015;72;473–480]. The port-wine stain can be associated with hypertrophy of the underlying soft tissues, such as gingival or maxillary hypertrophy.
Mental retardation, glaucoma and seizures are associated. Glaucoma is more likely if both the upper and lower lids are affected. The seizures are often seen in the first year of life.
Proposed Protocol from BJD 2014;171;4; 861–867
- Any child with a PWS affecting any part of the forehead should have an ophthalmology review as early as possible, ideally on the first day of life.
- MRI with gadolinium contrast should be performed ideally within the first 3 months, with the understanding that it may need to be repeated at a later date if reported as normal but with a clinical suspicion of SWS.
- Children with an abnormal MRI should have an electroencephalogram and regular neurological, neurodevelopmental and ophthalmological follow-up.
Laser Treatment of the PWS
- Pulsed dye laser
- Topical rapamycin
Pulsed dye laser is the standard treatment although complete resolution is rare. Multiple sessions are needed. In one study of PDL for capillary malformations, only 2% of patients experienced complete resolution after a mean of 17 treatments [Clin Exp Dermatol 2003;28;556]. The application of topical rapamycin improves the results and lessens the number of sessions for the treatment of PWSs in STS [JAAD 2015;72;151]. This study was a randomized, double-blind and placebo-controlled trial of 23 adults with SWS. The patients applied the 1% rapamycin cream daily after the first laser treatment and continued for 12 weeks. 1% rapamycin powder was dissolved in 3.8% benzyl alcohol and thoroughly mixed in a water-in-oil emulsion. Topical rapamycin alone does not seem to be effective. It is postulated that the rapamycin inhibits angioneogenesis which otherwise would occur post laser treatment. Studies in children have yet to be done.
A multidisciplinary approach is needed.
Old vs. new classification which is defined as any PWS involving the forehead. BJD 2014;171;4; 861–867
Facial patterns of PWS in documented cases of SWS. JAAD March 2015;72;473–480
Excellent case demonstrating how tremendous nodularity may occur later in life. Ann Dermatol. 2011 Nov; 23(4): 551–553
Trans Am Ophthalmol Soc. 2013 Sep; 111: 180–215
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