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A Patient-Derived Xenograft Model for Venous Malformation

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Capillary-venous malformation in the lower limb.

Lily C Uihlein¹, Marilyn G Liang, Steven J Fishman

¹Dermatology Program, Boston Children's Hospital, Boston, Massachusetts.

Pediatric Dermatology

|July 9, 2013

Summary

This study describes a distinct group of patients with lower extremity capillary malformations and prominent veins, differing from Klippel-Trenaunay syndrome. These findings help classify rare vascular disorders with minor overgrowth.

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Area of Science:

Vascular Malformations
Dermatology
Pediatric Orthopedics

Background:

Regional capillary malformations of the lower extremity are often linked to overgrowth disorders like Klippel-Trenaunay and Parkes Weber syndromes.
A subset of patients presents with capillary malformations, minor growth disturbances, and prominent veins, distinct from typical presentations.

Purpose of the Study:

To describe a series of patients with regional capillary malformation of the lower extremity associated with phlebectasia (vein dilation).
To characterize this specific patient group and differentiate it from established overgrowth syndromes.

Main Methods:

Retrospective case series of 17 patients diagnosed with capillary-venous malformation of the lower extremity.
Exclusion of patients with lymphatic or arteriovenous malformations.
Documentation of age, presentation, associated features, radiographic findings, and management.

Main Results:

Most patients had extensive capillary malformations without sharp borders; some had discrete stains.
Prominent veins were common, particularly in the popliteal fossa, knee, and dorsal foot.
Two-thirds experienced leg length discrepancies, and many showed minor girth differences; radiographic imaging revealed widespread venous dilatation.

Conclusions:

A distinct subset of patients with regional capillary-venous malformation, prominent veins, and minor limb asymmetry is identified.
This condition differs from Klippel-Trenaunay syndrome and represents a milder end of the vascular overgrowth spectrum.
Further characterization aids in classifying and managing these rare vascular anomalies.