STURGE-WEBER SYNDROME

Clinical

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.

Treatment

Proposed Protocol from BJD 2014;171;4; 861–867

Laser Treatment of the PWS

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.

Other Treatment

A multidisciplinary approach is needed.

References

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

www.childfoundation.com

positiveexposure.org


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