General
Martorell syndrome (angio-osteo hypotrophic syndrome, Martorell’s ulcer, abbreviated as AOH) is a rare disorder characterized by congenital involvement of peripheral veins and bone abnormalities. The arteriovenous system is primarily affected, resulting in overgrowth of the affected limb. This overgrowth is most commonly seen in the lower limbs, particularly involving the femur and tibia, where the difference between the two limbs may reach several centimeters.
To date, the exact frequency of Martorell syndrome (AOH) in the population is not known; however, approximately 1,000 cases have been described so far. The syndrome manifests during childhood or adolescence. The degree of its development is also influenced by the period during which bone growth occurs.
Diagnosis
Diagnosis is based on radiographic imaging, angiography (an imaging method that visualizes blood vessels), and in some cases also magnetic resonance imaging (MRI) or computed tomography (CT). When establishing the diagnosis, it is necessary to exclude other conditions that may present similarly, such as venous dysplasia, lymphedema, and bone tumors.
Treatment
Treatment should be initiated as early as possible, as early intervention increases the likelihood of success. Disorders of arteriovenous connections should be treated surgically, and orthopedic problems should likewise be managed surgically.
- dilation of superficial veins
- absence of certain venous connections
- cutaneous nevus
- limb swelling
- shortening of a limb
- pain in the limbs and loss of limb function
- warm skin
- dermatitis (skin rash)
- skin ulcers
- bleeding
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