Proteus syndrome.
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.
Kloeppel
Rainer
R
Department of Diagnostic Radiology, University Hospital of Leipzig, Leipzig, Germany. kloeppr@medizin.uni-leipzig.de
Rothe
Karin
K
Hoermann
Dieter
D
Schmidt
Frank
F
Bennek
Joachim
J
Kahn
Thomas
T
D000273:Adipose Tissue; D000293:Adolescent; D002100:Cachexia / Q000209:etiology; D004064:Digestive System / Q000473:pathology; D005260:Female; D006222:Hamartoma / Q000473:pathology*; D006391:Hemangioma / Q000209:etiology / Q000473:pathology; D006801:Humans; D008067:Lipoma / Q000473:pathology; D008279:Magnetic Resonance Imaging; D010166:Palliative Care; D016715:Proteus Syndrome / Q000473:pathology*