TY - JOUR
T1 - Assessment and management of the orthopedic and other complications of Proteus syndrome
AU - Tosi, Laura L.
AU - Sapp, Julie C.
AU - Allen, Elizabeth S.
AU - O'Keefe, Regis J.
AU - Biesecker, Leslie G.
N1 - Funding Information:
This research was partially supported by the JST - JICA Science and Technology Research Partnership for Sustainable Development (SATREPS) project on “Wild Fire and Carbon Management in Peat-Forest in Indonesia”. For Section 3.2 , we would like to thank Dr. Sadamu Yamagata of the Hokkaido University for his support. The work of Section 3.2 was also supported by a Grant-in-Aid for Scientific Research ( 24510023 ).
PY - 2011/10
Y1 - 2011/10
N2 - Purpose: A multidisciplinary workshop was convened at the National Institutes of Health (NIH) to discuss the management of the orthopedic and other complications of Proteus syndrome (PS), a progressive, disproportionate overgrowth disorder. While PS poses many complex challenges, the focus of the workshop was the management of the asymmetric and disorganized skeletal overgrowth that characterizes this multisystem disorder. Methods: Workshop participants developed recommendations for clinical research and patient management and surveillance to maximize the benefits and reduce the risks of surgical and other interventions. Results: Recommendations for clinical care and management included assessments of skeletal overgrowth and its progression with modalities such as X-ray, magnetic resonance imaging (MRI), dual-energy X-ray absorptiometry, and computerized tomography (CT) imaging. The recommendations also cover the assessment of non-orthopedic complications of PS that significantly impact surgical risk, such as pulmonary embolism and lung bullae. Surgical considerations in PS include assessment of the contribution of contractures to deformities and prophylactic soft-tissue release, aggressive and early use of epiphysiodesis and epiphysiostasis, amputation, and spinal bracing. Conclusion: Decisions on the timing of orthopedic procedures in children with PS are challenging because they entail balancing the risks of intervention in this high-risk and complex population against the increasing morbidity that patients experience with progressive bony overgrowth. If surgery is delayed too long, the condition may become inoperable. We hope that these recommendations will help clinicians gather appropriate data and assist their patients in making timely treatment decisions.
AB - Purpose: A multidisciplinary workshop was convened at the National Institutes of Health (NIH) to discuss the management of the orthopedic and other complications of Proteus syndrome (PS), a progressive, disproportionate overgrowth disorder. While PS poses many complex challenges, the focus of the workshop was the management of the asymmetric and disorganized skeletal overgrowth that characterizes this multisystem disorder. Methods: Workshop participants developed recommendations for clinical research and patient management and surveillance to maximize the benefits and reduce the risks of surgical and other interventions. Results: Recommendations for clinical care and management included assessments of skeletal overgrowth and its progression with modalities such as X-ray, magnetic resonance imaging (MRI), dual-energy X-ray absorptiometry, and computerized tomography (CT) imaging. The recommendations also cover the assessment of non-orthopedic complications of PS that significantly impact surgical risk, such as pulmonary embolism and lung bullae. Surgical considerations in PS include assessment of the contribution of contractures to deformities and prophylactic soft-tissue release, aggressive and early use of epiphysiodesis and epiphysiostasis, amputation, and spinal bracing. Conclusion: Decisions on the timing of orthopedic procedures in children with PS are challenging because they entail balancing the risks of intervention in this high-risk and complex population against the increasing morbidity that patients experience with progressive bony overgrowth. If surgery is delayed too long, the condition may become inoperable. We hope that these recommendations will help clinicians gather appropriate data and assist their patients in making timely treatment decisions.
KW - Limb-length inequality
KW - Overgrowth
KW - Proteus syndrome
KW - Scoliosis
UR - http://www.scopus.com/inward/record.url?scp=80053132881&partnerID=8YFLogxK
U2 - 10.1007/s11832-011-0350-6
DO - 10.1007/s11832-011-0350-6
M3 - Review article
C2 - 23024722
AN - SCOPUS:80053132881
SN - 1863-2521
VL - 5
SP - 319
EP - 327
JO - Journal of Children's Orthopaedics
JF - Journal of Children's Orthopaedics
IS - 5
ER -