Proteus syndrome (PS) is a rare and sporadic disorder characterized by overgrowth of multiple tissues and a propensity to develop particular neoplasms. The clinical manifestations of PS include macrodactyly, vertebral abnormalities, asymmetric limb overgrowth and length discrepancy, hyperostosis, abnormal and asymmetric fat distribution, asymmetric muscle development, connective tissue nevi, and vascular malformations. We report a 16-year old female patient who manifested a number of these complications and review the Chinese literature about the diagnosis, natural history, and management of PS.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4211478 | PMC |
| http://dx.doi.org/10.4081/dr.2010.e3 | 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.
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.
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!