AI Article Synopsis
- Tuberous sclerosis complex (TSC) is a genetic disorder that leads to benign tumor-like growths in various organs, most notably the skin, brain, and kidneys.
- An 8-year-old boy with TSC showed significant bone growth in his ribs and vertebrae, indicating that bone involvement may be underappreciated in this condition.
- The study highlights the potential of mTOR inhibitors as a treatment option for bone abnormalities in TSC and calls for more research into how this disorder affects the skeletal system.
Article Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas in multiple organ systems, primarily the skin, brain, heart, kidneys, lungs, and eyes. The skeletal system is commonly affected in patients with TSC, but these bone lesions are generally asymptomatic and have not been well characterized. We present clinically significant bone growth in two ribs and vertebrae in an 8-year-old male patient with TSC and discuss the effects of mammalian target of rapamycin (mTOR) inhibitors as a possible treatment for these osseous abnormalities. This report suggests that skeletal lesions may hold more clinical significance than previously assumed and that further research should be directed toward understanding bone involvement in TSC.
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| http://dx.doi.org/10.1002/ajmg.a.37235 | DOI Listing |
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