$Unique_ID{BRK03960} $Pretitle{} $Title{Maffucci Syndrome} $Subject{Maffucci Syndrome Multiple Angiomas and Endochondromas Dyschondrodysplasia with Hemangiomas Enchondromatosis with Multiple Cavernous Hemangiomas Kast Syndrome Hemangiomatosis Chondrodystrophica Ollier Disease Klippel-Trenaunay-Weber Syndrome Blue Rubber Bleb Nevus Syndrome } $Volume{} $Log{} Copyright (C) 1988, 1990 National Organization for Rare Disorders, Inc. 433: Maffucci Syndrome ** IMPORTANT ** It is possible the main title of the article (Maffucci Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Multiple Angiomas and Endochondromas Dyschondrodysplasia with Hemangiomas Enchondromatosis with Multiple Cavernous Hemangiomas Kast Syndrome Hemangiomatosis Chondrodystrophica Information on the following diseases can be found in the Related Disorders section of this report: Ollier Disease Klippel-Trenaunay-Weber Syndrome Blue Rubber Bleb Nevus Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Maffucci Syndrome is a rare congenital disorder characterized by multiple benign skin and bone lesions which in some cases, may be progressive. The lesions appear at birth or shortly thereafter, but may not become evident for several years. Symptoms Maffucci Syndrome is marked by benign growths on the skin, cartilage and/or bones. Twenty-five percent of patients exhibit lesions during the first year of life while seventy-eight percent experience symptoms before puberty. Some of the more commonly associated vascular lesions are: 1) Large growths containing blood-filled spaces due to dilation and thickening of the walls of the capillary loops (cavernous hemangiomas) 2) Small thick masses of capillaries (capillary hemangiomas) 3) Dilation of the veins (phlebectasia) Growths of dilated lymph vessels (lymphangiomas) and Blue Rubber Bleb Nevus Syndrome may also occur in conjunction with this disorder. Calcium deposits in veins (phleboliths) are usually found within vascular lesions and may be seen on radiographs. The location of the sites of skin lesions does not necessarily correspond with bone lesions. There may also be lesions of the esophagus, third portion of the small intestine (ileum), and anal mucous membranes. Lesions in the mucous membranes of the mouth and throat (oral mucosa) are common. These lesions often persist. The long bones are affected by abnormal growth of cartilage in the midsection (dyschondroplasia) due to a defect in the bone hardening process (endochondral ossification). During early childhood, cartilaginous tumors (endochondromas) may develop in the small bones of the hands and feet, as well. Skin lesions are firm, fixed, easily palpable nodules that occur on only one side of the body in approximately forty-eight percent of patients. They do not correspond in size if they occur on both sides of the body. Patients are usually short in stature, with thirty-six percent showing significant discrepancies between the length of both legs, often causing curvature of the spine (scoliosis). The bones tend to fracture easily. Occasionally, the internal lesions may ulcerate causing pain from pressure on nerves and blood vessels. Twenty-five to thirty percent of patients with Maffucci's Syndrome develop associated malignancies especially chondrosarcomas. These malignancies develop from bone and soft-tissue lesions. Other malignant connective tissue neoplasms including fibrosarcomas, angiosarcomas, lymphangiosarcomas, interstitial tissue cell tumors (gliomas), embryonic tissue cell (mesenchymal) ovarian tumors, and pancreatic adenocarcinomas have also been described. Causes The exact cause of Maffucci Syndrome is not known, although it is thought to be inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Maffucci Syndrome is a very rare disorder affecting males and females in equal numbers. Less than 105 cases have been documented in the medical literature in the United States since this disorder was first identified in 1881. Related Disorders Symptoms of the following disorders can be similar to those of Maffucci Syndrome. Comparisons may be useful for a differential diagnosis: Ollier Disease is a rare abnormal development of the bones (skeletal dysplasia) usually beginning in childhood. The disease affects bones and cartilage in joints of the arms and legs. Dwarfism can occur when both sides of the body are affected. Pain usually occurs only when bones fracture. (For more information on this disorder, choose "Ollier" as your search term in the Rare Disease Database). Klippel-Trenaunay-Weber Syndrome is a blood vessel disorder combining Nevus Flammeus (a birth mark that is the color of a Port Wine Stain), excessive growth of soft tissue and bone, and varicose veins. Cases range from mild to severe with a variety of complications possible. Onset usually occurs before birth or during early childhood. (For more information on this disorder, choose "Klippel Syndrome" as your search term in the Rare Disease Database). Blue Rubber Bleb Nevus Syndrome is a genetic blood vessel disorder characterized by benign growths in the skin and gastrointestinal tract that are present at birth. The growths in the skin are usually elevated, blue or purplish-red in color, and contain thin-walled sacs that are easily compressed. Other skin lesions may be large, disfiguring, and irregular in size with blue spots (macules), or black dots that merge with normal skin. Additional lesions may develop with age. Therapies: Standard Maffucci Syndrome should be treated on an individual basis due to the wide variety of possible symptoms. The discrepancies in leg length, curvature of the spine (scoliosis), and bone deformities may improve with orthopedic treatment or surgery. Reconstructive surgery may remove or reduce the size of large hemangiomas or lymphangiomas. The malignant neoplasms may be treated by surgery, radiation, chemotherapy, or a combination of these therapies. Therapies: Investigational This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Maffucci Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with many types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References ENCHONDROMATOSIS WITH HEMANGIOMAS (MAFFUCCI'S SYNDROME): E. Gutman, et al.; South Med J (April 1978, issue 71(4)). Pp. 466-467. CHONDROSARCOMA IN MAFFUCCI'S SYNDROME: T.C. Sun, et al.; J Bone Joint Surg [Am] October 1985, issue 67(8)). Pp. 1214-1219. ANGIOSARCOMA ARISING IN A PATIENT WITH MAFFUCCI SYNDROME: T.I. Davidson, et al.; Eur J Surg Oncol (December 1985, issue 11(4)). Pp. 381- 384.