AI 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.
Article Abstract
Background: Proteus syndrome is a rare disorder characterized by overgrowth of limbs and organs and neurocutaneous findings.
Methods: We examined three Proteus syndrome cases with unilateral foot enlargement, megafoot. The patients had ambulatory and cosmetic difficulties. Debulking surgery was performed.
Results: After the surgeries, patient mobility and functional scores were analyzed and found to be improved; only one patient had recurrence after 5 years. In the literature, there is no consensus about the treatment and the timing of treatment of Proteus syndrome. The literature suggests that early surgery for megafoot leads to better functional results. Debulking surgery and amputation are the two options mentioned. In the present cases, soft-tissue debulking was performed.
Conclusions: In patients with megafoot caused by Proteus syndrome, the functional results were better for those with early debulking surgery compared with those who did not undergo surgery. Patients were able to fit into shoes and walk without difficulty.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.7547/22-130 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
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.
Asian J Surg
December 2024
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.
Intraspinal lipomatous neurofibroma in a child with atypical Proteus syndrome.
Childs Nerv Syst
December 2024
Department of Neurological Surgery, New Jersey Pediatric Neuroscience Institute, 131 Madison Ave 3rd Floor, Morristown, NJ, 07960, USA.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!