Literature DB >> 26177838

Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex.

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.
© 2015 Wiley Periodicals, Inc.

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


  1 in total

1.  Bone Size and Quality Regulation: Concerted Actions of mTOR in Mesenchymal Stromal Cells and Osteoclasts.

Authors:  Hongguang Wu; Zhixiang Wu; Ping Li; Qian Cong; Rongrong Chen; Wenrui Xu; Soma Biswas; Huijuan Liu; Xuechun Xia; Shanshan Li; Weiwei Hu; Zhenlin Zhang; Samy L Habib; Lingli Zhang; Jun Zou; Hongbing Zhang; Weihong Zhang; Baojie Li
Journal:  Stem Cell Reports       Date:  2017-05-04       Impact factor: 7.765

  1 in total

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