Proteus syndrome
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Updated: Jul 16, 2026

Investigating the Spreading and Toxicity of Prion-like Proteins Using the Metazoan Model Organism C. elegans
Published on: January 8, 2015
Rainer Kloeppel1, Karin Rothe, Dieter Hoermann
1Department of Diagnostic Radiology, University Hospital of Leipzig, Leipzig, Germany. kloeppr@medizin.uni-leipzig.de
Abstract:
Proteus syndrome is a rarely described dysplasia syndrome of the group of congenital hamartomas that arises from mosaic mutation. An extraordinary case history including imaging studies will be reported. This 17-year-old girl suffered from cachexia, lifelong chronic obstipation, different dysplasias, and lipomatous tumor-like lesions. The following findings were marked: macrodactyly, nevi, hemihypertrophy, aggressive lipomatosis, hemangiomas of the spleen, and skull and cerebral malformations. Additionally, an intestinal affection with fatty wall thickening was detected. In contrast to reports in the literature describing a reduced lifespan with a mean of few years, our patient is still alive. The treatment should take a palliative symptomatic approach considering the clinical situation.
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