Introduction
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 that affects 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.
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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. Approximately 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
United States
Maffucci syndrome is rare. Fewer than 100 cases have been reported in the United States.
International
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 age 4-5 years.
Clinical
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.
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References
Albregts AE, Rapini RP. Malignancy in Maffucci's syndrome. Dermatol Clin. Jan 1995;13(1):73-8. [Medline].
Kaplan RP, Wang JT, Amron DM, Kaplan L. Maffucci's syndrome: two case reports with a literature review. J Am Acad Dermatol. Nov 1993;29(5 Pt 2):894-9. [Medline].
Faik A, Allali F, El Hassani S, Hajjaj-Hassouni N. Maffucci's syndrome: a case report. Clin Rheumatol. Feb 2006;25(1):88-91. [Medline].
Spitz JL. Maffucci syndrome. In: Genodermatosis, A Clinical Guide to Genetic Skin Disorders. Baltimore, Md: Lippincott Williams & Wilkins; 2005:118-9.
Tilsley DA, Burden PW. A case of Maffucci's syndrome. Br J Dermatol. Sep 1981;105(3):331-6. [Medline].
Further Reading
Keywords
dyschondrodysplasia with hemangiomas, enchondromatosis with multiple cavernous hemangiomas, multiple angiomas and endochondromas
