Detailed Information on Maffucci Syndrome

Maffucci syndrome is a really rare disorder.malformations frequently protrude as soft nodules
Maffucci syndrome is a disorder which affects theor tumors usually on the distal extremities, but
skin and skeleton, causing benign cartilage tumors,they can appear anywhere. Maffucci syndrome
bone deformities, and dark hemangiomas to grow.appears to be sporadically inherited. Maffucci
Maffucci syndrome is characterized by benignsyndrome has three main types of symptoms.
overgrowths of cartilage skeletal deformities, andVenous malformation may be superficial or deep.
dark red, irregular shaped patches of skin,If in the skin they frequently protrude as soft
resulting from benign growths on the skinbluish bumps. Benign cartilage tumor may show
consisting of a accumulation of blood vesselsanywhere in the body, but are most often found
(hemangiomas). Maffucci syndrome affects bothon the hands or feet, or long bones of the arms
males and females. Patients are normal at birthor legs. The enchondroma may reason the bone
and the syndrome manifests during childhood andto weaken and break. Bone deformities may
puberty.comprise shortened length of the long bones,
The enchondromas involve the extremities andresulting in imbalanced arm or leg lengths. Bones
their distribution is asymmetrical. Disfigurations ofmay also break because they are weak, and
the extremities are a consequence. Pathologicalwhen they heal, they may not support well.
fractures can occur in affected metaphyses andTreatment is not indicated in asymptomatic
diaphses of the long bones and are commonpatients if there is no evidence of any malignant
(26%). The risk for sarcomatous degeneration oftransformations. Surgical interventions can right or
enchondromas, hemangiomas, or lymphangiomasminimize deformities.
is 15-30%.Superficial and deep venous