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Klippel-Trenaunay-Weber syndrome variant
1Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi.
Summary
This case study details a patient with Klippel-Trenaunay-Weber syndrome exhibiting limb hypertrophy and vascular abnormalities. Symptoms like limb engorgement improved with elevation, suggesting a unique presentation of this rare vascular malformation syndrome.
Area of Science:
- Vascular Malformations
- Genetics
- Dermatology
Background:
- Klippel-Trenaunay-Weber syndrome is a rare congenital disorder characterized by vascular malformations, affecting soft tissues and bones.
- It typically presents with port-wine stains, venous and lymphatic malformations, and bony or soft-tissue hypertrophy.
Observation:
- The patient presented with soft-tissue and bony hypertrophy affecting all four limbs.
- Erythema and finger deformities were noted in the upper limbs.
- Limb engorgement and hypertrophy showed improvement upon limb elevation.
Findings:
- Retinal examination revealed large, dilated, and tortuous veins.
- Fluorescein angiography demonstrated no evidence of dye leakage in the retina.
- The clinical presentation suggests an unusual variant of Klippel-Trenaunay-Weber syndrome.
Implications:
- This case expands the known spectrum of Klippel-Trenaunay-Weber syndrome presentations.
- Understanding such variants is crucial for accurate diagnosis and management of vascular malformations.
- Further research into the genetic and molecular basis of these variants may offer new therapeutic targets.