Servelle-Martorell syndrome with extensive upper limb involvement: a case report

Area of Science:

• Vascular malformations
• Orthopedics
• Genetics

Background:

• Angio-osteohypotrophic syndrome, or Servelle-Martorell angiodysplasia, involves venous or arterial malformations.
• These malformations can lead to limb hypertrophy and bony hypoplasia.
• Extensive upper limb involvement is an uncommon presentation of this syndrome.

Purpose of the Study:

• To report a rare case of Servelle-Martorell syndrome with extensive upper limb involvement.
• To highlight Servelle-Martorell syndrome as a cause of angiodysplastic limb hypertrophy.

Main Methods:

• Case report of a young male patient.
• Clinical presentation included multiple swollen areas, functional difficulty, muscle atrophy, and bone hypoplasia in the right upper limb.

Main Results:

• The patient presented with severe, extensive involvement of the right upper limb and periscapular region.
• Symptoms included limb hypertrophy, muscle atrophy, and hypoplastic, tender bones.

Conclusions:

• Servelle-Martorell syndrome can manifest with extensive upper limb and periscapular region involvement.
• This condition is a significant cause of angiodysplastic limb hypertrophy.