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Updated: Nov 25, 2025
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Published on: July 21, 2013
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INVERSE KLIPPEL-TRENAUNAY SYNDROME
Mariana Franco Ferraz Santino1, Maria João Paiva Lopes2
1Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Summary
This case report details a rare instance of inverse Klippel-Trenaunay syndrome, characterized by vascular malformations and limb hypotrophy in a young patient. Further research is needed to understand this Klippel-Trenaunay syndrome variation.
Area of Science:
- Vascular Malformations
- Genetics and Rare Diseases
Background:
- Klippel-Trenaunay syndrome is a rare congenital vascular disorder.
- Inverse Klippel-Trenaunay syndrome is a rare variation characterized by capillary and venous malformations with limb hypotrophy.
Observation:
- A 16-year-old female presented with a grayish-depressed plaque on her left thigh.
- Angioresonance imaging revealed vascular malformations involving the skin and subcutaneous tissue of the affected limb.
Findings:
- The patient exhibited characteristics consistent with inverse Klippel-Trenaunay syndrome.
- Limb length modifications result from alterations in bones, muscles, or subcutaneous tissues.
Implications:
- This case highlights the importance of recognizing rare vascular malformations.
- Further clinical and molecular studies are essential for a comprehensive understanding of inverse Klippel-Trenaunay syndrome.
- Early diagnosis and management are crucial for patients with Klippel-Trenaunay syndrome variations.
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