title: Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex.
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.
authors.affiliation: Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Patrick
authors.initials: P
authors.lastname: Li
authors.affiliation: Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston, Massachusetts.|Pediatric Neurology, Vall d'Hebron Hospital, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Susana
authors.initials: S
authors.lastname: Boronat
authors.affiliation: Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Alexandra Lauryn
authors.initials: AL
authors.lastname: Geffrey
authors.affiliation: Pediatric Radiology, Vall d'Hebron Hospital, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Ignasi
authors.initials: I
authors.lastname: Barber
authors.affiliation: Department of Orthopaedics, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Brian Edward
authors.initials: BE
authors.lastname: Grottkau
authors.affiliation: Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Elizabeth Anne
authors.initials: EA
authors.lastname: Thiele
mesh_terms: D002648:Child; D005357:Fibrous Dysplasia of Bone / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014402:Tuberous Sclerosis / Q000150:complications* / Q000000981:diagnostic imaging
keywords: bone lesion; fibrous dysplasia; mTOR inhibitors; pediatric; tuberous sclerosis complex