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At a glance

It is a sporadic disorder characterized by an association of multiple enchondromas (benign tumors of cartilage), and cavernous hemangiomas are often involving the head and neck. The enchondromas affect the extremities and their distribution is asymmetrical. The most common sites of enchondromas are the metacarpal bones and phalanges of the hands. Lymphangiomas can also be present. Patients are normal at birth. The bone and cartilage deformities appear during childhood, usually between the ages of 1 to 5 years. However, it can also appear at puberty. Patients affected have pathologic fractures and sarcomas. There is a normal intelligence.

Synonyms

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

History

It was first reported in 1881 by Angelo Maffucci (1847-1903), an Italian pathologist. In 1889, possibly unaware of Maffucci’s article, Alfred Kast and Fredrich Daniel von Recklinghausen (1833-1910) reported another case. The condition was known for a long time as the Kast-Maffucci Syndrome. However, Kast’s name was abandoned and Maffucci Syndrome is the accepted eponym. This congenital disorder is characterized by dyschondroplasia of one or more limbs, multiple enchondromas, and soft tissue hemangiomas.

Incidence

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 inheritance

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

Pathophysiology

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.

Diagnosis

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. The first sign is usually finding of an enchondroma in a long bone and affect only one side of the body in approximately 40% of patients. The cavernous hemangiomas appear around the ages of ...

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