Proteus syndrome Academic Article Article uri icon


MeSH Major

  • Cell Transformation, Viral
  • Oncogenes
  • Receptors, Cell Surface


  • 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.

publication date

  • March 27, 2002



  • Academic Article


Digital Object Identifier (DOI)

  • 10.1097/00004728-200203000-00017

PubMed ID

  • 11884784

Additional Document Info

start page

  • 262

end page

  • 265


  • 26


  • 2