Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options.
The skeleton is frequently affected in individuals with neurofibromatosis type 1, and some of these bone manifestations can result in significant morbidity. The natural history and pathogenesis of the skeletal abnormalities of this disorder are poorly understood and consequently therapeutic options for these manifestations are currently limited. The Children's Tumor Foundation convened an International Neurofibromatosis Type 1 Bone Abnormalities Consortium to address future directions for clinical trials in skeletal abnormalities associated with this disorder. This report reviews the clinical skeletal manifestations and available preclinical mouse models and summarizes key issues that present barriers to optimal clinical management of skeletal abnormalities in neurofibromatosis type 1. These concepts should help advance optimal clinical management of the skeletal abnormalities in this disease and address major difficulties encountered for the design of clinical trials.
Elefteriou
Florent
F
Department of Medicine, Vanderbilt Center for Bone Biology, Vanderbilt University Medical Center, Nashville, Tennessee 37232-0575, USA. florent.elefteriou@vanderbilt.edu
Kolanczyk
Mateusz
M
Schindeler
Aaron
A
Viskochil
David H
DH
Hock
Janet M
JM
Schorry
Elizabeth K
EK
Crawford
Alvin H
AH
Friedman
Jan M
JM
Little
David
D
Peltonen
Juha
J
Carey
John C
JC
Feldman
David
D
Yu
Xijie
X
Armstrong
Linlea
L
Birch
Patricia
P
Kendler
David L
DL
Mundlos
Stefan
S
Yang
Feng-Chun
FC
Agiostratidou
Gina
G
Hunter-Schaedle
Kim
K
Stevenson
David A
DA
D000818:Animals; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000151:congenital / Q000628:therapy*; D001842:Bone and Bones / Q000002:abnormalities; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D008954:Models, Biological; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis / Q000628:therapy*; D013100:Sphenoid Bone / Q000002:abnormalities; D035441:Thoracic Wall / Q000002:abnormalities; D013977:Tibia / Q000002:abnormalities