Nodular Proliferation in Parkes Weber Syndrome

Area of Science:

• Vascular Surgery
• Dermatology
• Genetics

Background:

• Parkes Weber syndrome (PWS) is a rare vascular disorder characterized by high-flow arteriovenous malformations and limb overgrowth.
• Previous PWS cases reported congenital short femur and severe lymphedema.
• This study introduces a novel presentation of PWS with nodular proliferative lesions.

Observation:

• A 38-year-old male with PWS presented with painful, bleeding nodular tumors on his right lower limb.
• Physical examination confirmed significant right lower limb enlargement and two distinct nodular tumors.
• Computed tomographic angiography identified multiple arteriovenous shunts in the affected limb.

Findings:

• Surgical resection of the nodular tumors was performed.
• Pathology revealed tumors positive for CD31 and CD34, and negative for D240.
• The patient remained asymptomatic with no tumor recurrence eight months post-surgery.

Implications:

• The occurrence of nodular tumors in PWS is a previously undescribed phenomenon.
• These lesions may represent hamartomatous growths, potentially linked to CLOVES syndrome or PIK3CA mutations.
• This finding expands the clinical spectrum of Parkes Weber syndrome and suggests further research into its underlying genetic basis.