Are port wines stains a feature of tuberous sclerosis?

Tuberous sclerosis complex is a multisystem inherited disorder characterized by the development of tumour-like growths in brain, skin and other organs. Although cutaneous vascular anomalies are not considered a common manifestation, we have encountered co-occurrence of port wine stains and tuberous sclerosis.

To assess the prevalence of port wine stain in patients with previously diagnosed tuberous sclerosis.

All cases diagnosed with tuberous sclerosis at two tertiary care centres from 2000 to 2009 were reviewed. Cases with clinically documented port wine stains were included for evaluation.

Of 24 patients diagnosed with tuberous sclerosis, three (12.5%) had clinically evident port wine stains. The prevalence of port wine stains in this series of tuberous sclerosis patients was significantly higher than the 0.3% prevalence of port wine stain in the general population.

Port wine stain rate in this population was significantly greater than the expected rate. Further studies are needed to assess the frequency of port wine stains in tuberous sclerosis and to clarify whether the finding should be added to the list of cutaneous features of tuberous sclerosis.