You are in: eMedicine Specialties > Dermatology > PEDIATRIC DISEASES Maffucci SyndromeArticle Last Updated: Nov 13, 2007AUTHOR AND EDITOR INFORMATIONSection 1 of 9
  Author: Raymond T Kuwahara, MD, Dermatologist, Private Practice Raymond T Kuwahara is a member of the following medical societies: American Academy of Dermatology Coauthor(s): Ron Rasberry, MD, Chief of Dermatology, Veterans Medical Center at Memphis; Associate Professor, Department of Dermatology, University of Tennessee at Memphis Editors: Jean Paul Ortonne, MD, Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France; Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA; Lester F Libow, MD, Dermatopathologist, South Texas Dermatopathology Laboratory; Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University; William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System Author and Editor Disclosure Synonyms and related keywords: dyschondrodysplasia with hemangiomas, enchondromatosis with multiple cavernous hemangiomas, multiple angiomas and endochondromas INTRODUCTIONSection 2 of 9
  BackgroundEnchondroma 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. PathophysiologyMaffucci 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. FrequencyUnited StatesMaffucci syndrome is rare. Fewer than 100 cases have been reported in the United States. InternationalMaffucci syndrome is rare, with about 160 total case reports in the English literature. Mortality/MorbidityUsually, 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. RaceNo increased frequency occurs because of race. SexMaffucci syndrome appears to be sporadically inherited. No sexual bias is present. AgeLesions are first noted usually by age 4-5 years. CLINICALSection 3 of 9
History
Physical
CausesThe cause of this syndrome is unclear. It has no familial pattern of inheritance and appears sporadically. DIFFERENTIALSSection 4 of 9
Kaposi Sarcoma Klippel-Trenaunay-Weber Syndrome Proteus Syndrome
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| Media file 1: Characteristic hemangiomas on the patient's right upper extremity. These hemangiomas are benign and asymptomatic. | |
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| Media file 2: Enchondroma on the left elbow. | |
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| Media file 3: Radiograph of a patient's hands showing enchondromas and phleboliths. Areas of translucency represent enchondromas, and opaque spots represent phleboliths. | |
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| Media file 4: Hemangiomas on a patient's right hand. | |
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Article Last Updated: Nov 13, 2007
