| Literature DB >> 26177838 |
Patrick Li1, Susana Boronat1,2, Alexandra Lauryn Geffrey1, Ignasi Barber3, Brian Edward Grottkau4, Elizabeth Anne Thiele1.
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.Entities:
Keywords: bone lesion; fibrous dysplasia; mTOR inhibitors; pediatric; tuberous sclerosis complex
Mesh:
Year: 2015 PMID: 26177838 DOI: 10.1002/ajmg.a.37235
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802