Servelle-Martorell syndrome ICD-10: Q87.2

Severelle 1948 ; Martorell 1949

Rare, congenital, vascular malformation characterized by venous or occasionally arterio-venous malformations that lead to soft tissue hypertrophy and bone hypoplasia.

m>w

In the first year of life.

Mainly lower extremities, less frequently upper extremities; very rarely trunk (Ada F et al. 2018)

The affected limbs are generally shortened, severely deformed, painful and edematous and are accompanied by bone and muscle hypotrophy. There are segemtal cushion-like bluish distensions of the skin. Gibbon and Pooley (1990) reported a case of SMS with a pathologic femoral shaft fracture.

Typically, single or multiple segments of the limb are affected. Extensive involvement of the extremities has been reported. Trunk involvement has also been reported.

Although the guidelines recommend surgical treatment for secondary complications (Lee BB et al. 2015), surgery may be a good choice in some cases before complications occur. However, cases should be carefully selected, prepared and evaluated by a multidisciplinary team consisting of a radiologist, a plastic surgeon, an orthopedic surgeon, an anesthesiologist and a pediatric surgeon. However, open vascular surgery and endovascular surgery are not routinely recommended for vascular malformations due to the low vital risk, high recurrence rate and potential high morbidity.

Ada F et al (2018) A 20-year-old male patient complained of leg swelling starting from the right foot and extending to the knee. The patient stated that the swelling was only present on the foot at birth, although it had progressed to the knee by now.

On physical examination, the right lower extremity was larger than the left lower extremity. The vein dilatations extended to the anterior and posterior sides of the right lower extremity, especially on the lateral side of the right lower extremity. The vascular lesions around the knee were partially thrombosed. The right lower extremity was shorter than the left lower extremity. Complete blood count, biochemistry and other laboratory parameters were normal.

Doppler ultrasonography (right): no pathology of the deep venous structures, the saphenofemoral junction and the great saphenous vein. Partial chronic thrombosis was noted in the enlarged vein segment on the lateral side of the right lower limb and the venous valves were native. Bilateral Doppler ultrasonography of the lower extremity arteries showed no pathologic findings. X-ray of the lower extremities showed a hypoplastic and destroyed right tibia and fibula caused by soft tissue hypertrophy and venous compression, and the right fibula had a sharp curvature in the midsection.

Bilateral magnetic resonance angiography of the lower extremity veins showed no pathology in the iliac veins, femoral veins and great saphenous veins. The lesion mainly involved the right lower extremity from just above the knee to the foot. Phlebography: irregular venous dilatation.

All hypertrophic soft tissue and venous dilatations were surgically removed. The appearance of the right lower limb was similar to that of the left lower limb and there was no recurrence three months after surgery.

1. Ada F et al. (2018) Surgical treatment of Servelle-Martorell syndrome. Turk Gogus Kalp Damar Cerrahisi Derg 26:301-304.
2. Bhatnagar A et al. (2012) A rare case of servelle martorelle syndrome-extensive angioosteohypotrophic lesion of upper limb. World J Surg Res 1:6-11.
3. Gibbon WW et al. (1990) Pathological fracture of the femoral shaft in a case of Servelle-Martorell syndrome (phleboeclatic osteohypoplastic angiodysplasia with associated arteriovenous malformation) Br J Radiol 63:574-576.
4. Karuppal R et al. (22008) Servelle-Martorell syndrome with extensive upper limb involvement: a case report. J Med Case Rep 2:142-142.
5. Langer M et al. (1982) Radiologisch erfassbare Veränderungen der Angiodysplasien Typ Klippel-Trenaunay und Typ Servelle-Martorell [Radiologic aspects of the congenital arteriovenous malformations, Klippel-Trenaunay type, and Servelle-Martorell type. Rofo 136:577-582.
6. Lee BB et al. (2015) Diagnosis and Treatment of Venous Malformations. Consensus Document of the International Union of Phlebology (IUP): updated 2013. Int Angiol 34:97-149.
7. Settembrini AM et al. (2023) A typical presentation of Servelle-Martorell syndrome. J Vasc Surg Venous Lymphatic Disord 11:657-658.
8. Singh A (2017) Servelle-Martorell syndrome. JCR 7:47-50.
9. Weiss T et al. (2000) Peripheral vascular malformation (Servelle-Martorell) Circulation. 101:82-83.