Tuft of white hair dissappearance in a TSC patient treated with everolimus for SEGA

Abstract

Objective: Tuberous sclerosis complex (TSC) predisposes to development of lesions within multiple organ systems, including brain, kidneys, heart, lungs, skin. Evidence supports and ongoing studies are further evaluating the role of mTOR inhibitors in the treatment of a wide spectrum of disease manifestations, including reduction in tumor volume (Subependimal giant cell astrocytomas - SEGAs, renal angiomyolipoma) and epilepsy improvement, lung function and skin manifestations, including facial angiofibromas. Methods: We report a 16 years old male with normal intellect who was diagnosed with definite TSC based on: multiple hypomelanic macules, facial angiofibromas, shagreen patch, cortical tubers, subependimal nodules, SEGA>1cm. The patient also has epilepsy with focal seizures (frequency 2 seizures/month). The patient also presented a tuft of white hair located in the vertex area of the head. He was treated with Everolimus for the growing subependimal giant cell astrocytoma (SEGA) associated to Tuberous Sclerosis Complex (TSC). Results: The results in this case were: SEGA volume reduction (brain MRI was repeated 3 months after the dose has been established) and cosmetic benefit – starting second day after treatment onset (angiofibromas became pale), consolidated at 3 month of treatment (almost not visible). Another good effect of Everolimus treatment was clinically relevant reduction in overall seizure frequency (one seizures/6 months). In the first 6 months of treatment the disappearance of the white hair tuft was noted. Conclusion: Everolimus provides a non-invasive method to treat SEGA or renal growing tumors associated to TSC. We describe a dermatologic positive effect of Everolimus – the disappearance of the tuft of white hair. This is a very rare clinical manifestation that may be associated to TSC clinical picture. In a PubMed search using the key words “everolimus dermatological effects”, “everolimus white hair”, “everolimus hair”, we did not find any other case reporting white hair disappearance under Everolimus treatment.