AUTHOR INFORMATION	Section 1 of 9
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Author: Raymond T Kuwahara, MD, Director of Clinical Research, Assistant Professor, Department of Dermatology, University of Oklahoma Coauthor(s): Ron Rasberry, MD, Chief, Department of Medicine, Section of Dermatology, Veterans Medical Center, Associate Professor, Department of Dermatology, University of Tennessee at Memphis

Raymond T Kuwahara, MD, is a member of the following medical societies: American Academy of Dermatology

Editor(s): Jean Paul Ortonne, MD, Chair, Professor, Department of Dermatology, Hôpital L'Archet, Nice University, France; Richard Vinson, MD, Chief, Department of Dermatology, William Beaumont Medical Center; Lester Libow, MD, Chief of Dermatopathology, Departments of Dermatology and Pathology, Brooke Army Medical Center; Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University; and William D James, MD, Program Director, Vice-Chair, Albert M Kligman Professor, Department of Dermatology, University of Pennsylvania School of Medicine

	INTRODUCTION	Section 2 of 9
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Background: Enchondroma with multiple angiomas (Maffucci syndrome) was first reported by Maffucci in 1881 after a 40-year-old woman died from complications following amputation of an arm. The patient had frequent and severe hemorrhage from a vascular tumor for which she was admitted to the hospital. In view of the profuse bleeding, an amputation was performed and the patient died from infection. Maffucci reported a thorough autopsy that described all the main points of the syndrome named after him. In 1941, Carleton et al proposed the eponym Maffucci syndrome.

Maffucci syndrome is a rare genetic disorder affecting both males and females. It is characterized by benign enlargements of cartilage (enchondromas); bone deformities; and dark, irregularly shaped hemangiomas. No racial or sexual predilection is apparent. No familial pattern of inheritance has been shown, but the disease manifests early in life, usually around the age of 4 or 5 years, with 25% of cases being congenital. The disease appears to develop from mesodermal dysplasia early in life. Patients apparently are of average intelligence, and no associated mental or psychiatric abnormalities seem to be present. About 160 cases have been published in the English literature.

Pathophysiology: Maffucci syndrome affects the skin and the skeletal systems. Superficial and deep venous malformations (hemangiomas) often protrude as soft nodules or tumors usually on the distal extremities, but they can appear anywhere. The hemangiomas are usually asymmetric. Venous-lymphatic malformations can occur but are much less common. Enchondromas are benign cartilaginous tumors that can appear anywhere, but they are usually found on the phalanges and the long bones. These bone abnormalities are usually asymmetric and cause secondary fractures. About 30-37% of enchondromas can develop into a chondrosarcoma.

The hemangiomas in Maffucci syndrome manifest as blue subcutaneous nodules that can be emptied by pressure. The hemangiomas can be unilateral or bilateral and are usually asymmetric. Thrombi often form within vessels and develop into phleboliths. These phleboliths appear as calcified vessels under microscopic examination.

Enchondromas develop from the mesodermal dysplasia associated with Maffucci syndrome. As the bones grow, some cartilage material is left behind and grows irregularly, developing into the characteristic bone deformities. Bone irregularities include shortened length of the long bones, unequal leg length, pathologic fractures, and malunion of fractures.

Neoplastic changes occur in enchondromas. Chondrosarcoma is the most common neoplasm in this syndrome, affecting about 30% of patients. The average age for neoplastic change is 40 years. Vascular neoplasms have occurred in 4 reported cases: 2 hemangiosarcomas and 2 lymphangiosarcomas.

Frequency:

In the US: Maffucci syndrome is rare. Less than 100 cases have been reported in the United States.

Internationally: Maffucci syndrome is rare, with about 160 total case reports in the English literature.

Mortality/Morbidity: Usually, the skin and bone lesions progress slowly through the first or second decades of life. Bone and skin abnormalities cease by the second to third decade. Patients have a good prognosis if no malignant degeneration occurs. Patients usually have a normal life span.

Race: No increased frequency occurs because of race.

Sex: Maffucci syndrome appears to be sporadically inherited. No sexual bias is present.

Age: Lesions are first noted usually by the age of 4 or 5 years.

	CLINICAL	Section 3 of 9
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History:

Parents of a child with Maffucci syndrome first notice soft, blue-colored growths on the distal aspects of the extremities.

Patients with Maffucci syndrome are usually short in stature and may have unequal arm or leg lengths due to the bone abnormalities.

Physical:

Hemangiomas have been reported in various areas of the body, including the leptomeninges, the eyes, the pharynx, the tongue, the trachea, and the intestines.

Enchondromas are usually found in the hands (89%), but they can be found on, although not limited to, the foot, the tibia, the fibula, the femur, the humerus, the ribs, and the skull. The tumors appear as nodular outgrowths and can cause a fracture, leading to further complications, such as shortened or unequal length limbs. Patients who are severely affected can have difficulty walking and manually manipulating objects.

Causes: The cause of this syndrome is unclear. It has no familial pattern of inheritance and appears sporadically.

	DIFFERENTIALS	Section 4 of 9
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Kaposi Sarcoma
Klippel-Trenaunay-Weber Syndrome
Proteus Syndrome

Other Problems to be Considered:

Dyschondrodysplasia with hemangiomas
Enchondromatosis with multiple cavernous hemangiomas
Gorham syndrome
Multiple angiomas and endochondromas
Ollier disease