Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex.
Am J Med Genet A
; 167A(11): 2755-7, 2015 Nov.
Article
en En
| MEDLINE
| ID: mdl-26177838
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Costillas
/
Columna Vertebral
/
Esclerosis Tuberosa
/
Displasia Fibrosa Ósea
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2015
Tipo del documento:
Article