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Published on: January 8, 2015
Proteus syndrome
Rainer Kloeppel1, Karin Rothe, Dieter Hoermann
1Department of Diagnostic Radiology, University Hospital of Leipzig, Leipzig, Germany. kloeppr@medizin.uni-leipzig.de
Journal of Computer Assisted Tomography
|March 9, 2002
Summary
Proteus syndrome, a rare congenital hamartoma, involves mosaic mutations. This case highlights extensive dysplasias and lipomatosis in a surviving patient, emphasizing palliative care.
Area of Science:
- Medical Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Proteus syndrome is a rare congenital hamartoma syndrome.
- It arises from mosaic mutations.
- Characterized by progressive, asymmetric overgrowth and hamartomatous malformations.
Observation:
- A 17-year-old female patient presented with cachexia and chronic obstipation.
- She exhibited multiple dysplasias including macrodactyly, nevi, hemihypertrophy, and aggressive lipomatosis.
- Imaging revealed splenic hemangiomas, skull/cerebral malformations, and intestinal fatty wall thickening.
Findings:
- The patient presented with a complex constellation of Proteus syndrome manifestations.
- Unusual findings included extensive lipomatosis and significant intestinal involvement.
- The patient's survival beyond the typically reported lifespan is a key observation.
Implications:
- This case underscores the variable clinical spectrum of Proteus syndrome.
- It highlights the importance of comprehensive imaging and multidisciplinary management.
- Palliative and symptomatic treatment approaches are crucial for managing this rare condition.
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