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
Gross deformity of the hand as a result of multiple enchondromas in a
woman with Maffucci syndrome.
Radiograph of the hand showing multiple enchondromas in the fingers,
metacarpalia, and the ulna (with bone destruction).
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 ...