Imaging spectrum of calvarial abnormalities
Calvarial abnormalities are usually discovered incidentally on radiologic studies or less
commonly manifest with symptoms. This narrative review describes the imaging spectrum of …
commonly manifest with symptoms. This narrative review describes the imaging spectrum of …
Less common manifestations in TSC
S Boronat, I Barber - … Journal of Medical Genetics Part C …, 2018 - Wiley Online Library
Tuberous sclerosis complex (TSC) is due to pathogenic variants in TSC1 or TSC2 genes
resulting in hyperactivation of the mTOR pathway. Many organ systems can be affected …
resulting in hyperactivation of the mTOR pathway. Many organ systems can be affected …
Tsc2 is a molecular checkpoint controlling osteoblast development and glucose homeostasis
RC Riddle, JL Frey, RE Tomlinson… - … and cellular biology, 2014 - Taylor & Francis
Insulin signaling in osteoblasts regulates global energy balance by stimulating the
production of osteocalcin, a bone-derived protein that promotes insulin production and …
production of osteocalcin, a bone-derived protein that promotes insulin production and …
Sclerotic bone lesions in tuberous sclerosis complex: a genotype–phenotype study
S Boronat, I Barber, EA Thiele - American Journal of Medical …, 2017 - Wiley Online Library
Tuberous sclerosis complex (TSC) is due to pathogenic variants in TSC1 or TSC2 genes
resulting in hyperactivation of the mTOR pathway. Many organ systems can be affected …
resulting in hyperactivation of the mTOR pathway. Many organ systems can be affected …
Opacification of the middle ear and mastoid: imaging findings and clues to differential diagnosis
ACC Lo, SF Nemec - Clinical Radiology, 2015 - Elsevier
Opacification of the middle ear and mastoid represents a spectrum of inflammatory,
neoplastic, vascular, fibro-osseous, and traumatic changes. This article reviews the most …
neoplastic, vascular, fibro-osseous, and traumatic changes. This article reviews the most …
Fibrous dysplasia
P Bianco, S Wientroub - Pediatric bone, 2012 - Elsevier
Publisher Summary Recognition of fibrous dysplasia (FD) as a distinct skeletal disease is
commonly attributed to the description of an osteitis fibrosa disseminata occurring in …
commonly attributed to the description of an osteitis fibrosa disseminata occurring in …
Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex
P Li, S Boronat, AL Geffrey, I Barber… - American Journal of …, 2015 - Wiley Online Library
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized
by benign hamartomas in multiple organ systems, primarily the skin, brain, heart, kidneys …
by benign hamartomas in multiple organ systems, primarily the skin, brain, heart, kidneys …
Tuberous sclerosis and cutaneous stigmata: ever-expanding spectrum
P Madaan, L Saini, N Sankhyan, D De… - Archives of Disease in …, 2020 - adc.bmj.com
An 18-month-old boy presented with a swelling on his back, global developmental delay,
and seizures. At birth, he had a tuft of hair on his left lower back which developed into an ill …
and seizures. At birth, he had a tuft of hair on his left lower back which developed into an ill …
Co‐existing fibrous dysplasia and atypical lymphoplasmacyte‐rich meningioma
N Ghosal, SV Furtado, V Santosh, M Sridhar… - …, 2007 - Wiley Online Library
We report an unusual and extremely rare case of coexisting fibrous dysplasia of the
sphenoid sinus with atypical lymphoplasmacyte rich meningioma (World Health …
sphenoid sinus with atypical lymphoplasmacyte rich meningioma (World Health …
Tuberous Sclerosis
G Ashburner, LM White, A Naraghi - Scoliosis, 2023 - Springer
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder
characterized principally by multiorgan development of benign tumors and hamartomas …
characterized principally by multiorgan development of benign tumors and hamartomas …