Maffucci Syndrome

Genetic disorder characterized by enchondromas (benign tumors of cartilage), and multiple cavernous hemangiomas, often involving the head and neck. Bone and cartilage deformities appear during childhood in the years before puberty. Pathologic fractures and sarcomas. Normal intelligence.

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Maffucci-Kast Syndrome; Kast Syndrome; Chondrodysplasia-Hemangioma Syndrome.

First reported in 1881 by Angelo Maffucci, an Italian pathologist. This congenital disorder is characterized by dyschondroplasia of one or more limbs, multiple enchondromas, and soft tissue hemangiomas.

Rare; fewer than 100 cases have been reported in the United States, whereas approximately 160 case reports have been discussed in the English literature. There is no increased frequency because of race, no sexual bias, and the lesions are first noted by age 4 or 5 years.

Genetic disorder that is expressed in both sexes, but males are more frequently affected. Sporadic occurrence (noninherited), although familial cases have been reported. Gene locus is short arm of chromosome 3 (3p22-p21.1).

Medical condition that affects the skin and the skeletal systems. Asymmetrical hemangiomas (blue subcutaneous nodules) often protrude as soft nodules or tumors usually on the distal extremities. Thrombi often form within vessels and develop into phleboliths. These phleboliths appear as calcified vessels under microscopic examination. Venous-lymphatic malformations can occur but are much less common. Enchondromas are benign cartilaginous tumors that can appear anywhere but are usually found on the phalanges and the long bones. Neoplastic changes occur in enchondromas. Approximately 30 to 37% of enchondromas can develop into a chondrosarcoma, which is the most common neoplasm. The average age for neoplastic change is 40 years.

Based on clinical findings. Biopsy of soft tissue and bony lesions that are rapidly growing is mandatory to exclude malignant changes. Characteristic radiographic findings of ovoid, pyramidal-shaped, and linear translucent defects in the metaphyses of affected long bones and in flat bones.

Manifestations usually after second year of life. Vascular lesions (usually cavernous sometimes capillary and mixed capillary-venous anomalies) often appear in infancy and commonly involve hands and feet. They are soft, compressible blue or purple vascular malformations that enlarge in proportion to the child's growth. Twenty-five percent of patients have hemangiomas in the head and neck region, including pharynx, tongue, and trachea. Hemangiomas in the cervical spine may result in paraplegia, whereas those involving the gastrointestinal tract may cause severe bleeding. Skeletal changes consist of multiple enchondromas, exostoses, and recurrent fractures (phalangeal and metacarpal bones). Long bone involvement is common and leads to progressive ...