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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139323 | PMC |
| http://dx.doi.org/10.4103/1658-354X.82818 | DOI Listing |
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Thoracic facet overgrowth causing radiculopathy - A rare spinal manifestation of Proteus syndrome.
Clin Neurol Neurosurg
January 2025
Case Western Reserve University School of Medicine, Cleveland OH, United States; Depart of Neurosurgery, University Hospitals Cleveland Medical Center, Cleveland OH, United States. Electronic address:
Prenatal Diagnosis of Proteus Syndrome: About a Case.
Am J Med Genet A
December 2024
Constitutional Genetics Laboratory, CHU Amiens Picardie, Amiens, France.
Proteus syndrome (PS) is a rare disorder (< 1/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the AKT1 gene.
View Article and Find Full Text PDFTumour spectrum in -related Proteus syndrome: a systematic review of clinical reports and series.
J Med Genet
December 2024
Center for Precision Health Research, National Human Genome Research Institute, Bethesda, Maryland, USA
-related Proteus syndrome is an ultra-rare mosaic overgrowth disorder with tumour predisposition. We conducted a systematic review to determine the range and characteristics of these tumours. A systematic review was conducted to identify clinical reports and clinical series of Proteus syndrome published between 1983 and 2023.
View Article and Find Full Text PDFProteus syndrome: A rare case report.
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Department of Neurosurgery, Sanbo Brain Hospital, Beijing, China. Electronic address:
Management of Children with Megafoot Secondary to Proteus Syndrome: A Report of Three Cases with Long-Term Follow-Up.
J Am Podiatr Med Assoc
November 2024
*Department of Orthopaedics and Traumatology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Article Synopsis
- Proteus syndrome is a rare condition that causes overgrowth in limbs and organs, with some patients experiencing significant foot enlargement referred to as megafoot, leading to mobility and cosmetic challenges.
- Three patients underwent debulking surgery to address megafoot, resulting in improved mobility and function, although one patient experienced a recurrence after five years.
- Early surgical intervention showed better outcomes, as patients reported being able to wear shoes and walk comfortably post-surgery, despite ongoing debate in the literature regarding treatment strategies for Proteus syndrome.
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