$Unique_ID{BRK03741} $Pretitle{} $Title{Fibromatosis, Congenital Generalized} $Subject{Fibromatosis Congenital Generalized CGF Myofibromatosis Desmoid Tumor Congenital Fibrosarcoma Gardner's Syndrome Neurofibromatosis} $Volume{} $Log{} Copyright (C) 1990 National Organization for Rare Disorders, Inc. 753 Fibromatosis, Congenital Generalized ** IMPORTANT ** It is possible that the main title of the article (Congenital, Generalized Fibromatosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms CGF Myofibromatosis Desmoid Tumor Information on the following diseases can be found in the Related Disorders section of this report: Congenital Fibrosarcoma Gardner's Syndrome Neurofibromatosis 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. Congenital Generalized Fibromatosis is a rare disorder characterized by multiple noncancerous tumors. It is an invasive and recurring disorder that can involve the bones, internal organs, skin and muscles. These tumors are usually present at, or may occur within a few months of birth. Symptoms Congenital Generalized Fibromatosis is a progressive congenital disorder that is characterized by benign tumors of the bones, internal organs, skin or muscles. The tumors can range from 3 cm. to 18cm. in size, and very often do not cause symptoms. Soft tissue and bony tumors will sometimes resolve without treatment. If the abdominal cavity or chest are involved, the tumors may cause an obstruction of the intestinal tract, constipation, diarrhea or respiratory difficulties. Although these types of tumors are not malignant, they can be disabling or life-threatening due to their locally invasive and recurring characteristics. Causes The exact cause of Congenital Generalized Fibromatosis is unknown. Some scientists believe it may be inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty- five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Congenital Generalized Fibromatosis is a rare disorder that affects newborn males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Congenital, Generalized Fibromatosis. Comparisons may be useful for a differential diagnosis: Congenital Fibrosarcoma is a rare, highly malignant bone tumor formed from the cells of connective fibrous tissue (fibroblasts). It usually occurs between the ages of 10 and 20, but can occur at any age. Gardner's Syndrome is a hereditary condition characterized by multiple benign growths on the mucous lining of the colon, bony tumors of the skull, fatty cysts in the skin, and extra teeth. Patients with Gardner Syndrome have a high probability of developing cancer during their middle years. (For more information on this disorder, choose "Gardener" as your search term in the Rare Disease Database.) Neurofibromatosis (NF) is a genetic disorder with highly variable manifestations which can affect many body systems. There are two different types; NF I and NF II. Onset is usually during childhood. The disease tends to become more active at puberty, during pregnancy, and at menopause. NF is characterized by multiple benign tumors on the nerves under the skin which can result in disfigurement, curvature of the spine and long bones, and other complications. NF II includes acoustic neuroma which can cause deafness. (For more information on this disorder, choose "Neurofibromatosis" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Congenital Generalized Fibromatosis usually consists of surgical removal of the tumor. Chemotherapeutic drugs such as vincristine, actinomycin D and cyclophosamide (VAC) may be prescribed alone or in conjunction with radiation therapy and surgery. Some tumors may disappear without treatment, but they should be closely followed by a physician. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational At the present time, a study is being conducted on the effectiveness of the drug tamoxifen in treating certain types of Fibromatosis. More research must be conducted to determine long-term safety and effectiveness of this drug. This disease entry is based upon medical information available through July 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 Congenital Generalized Fibromatosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Laura S. Nye Research Fund for Desmoid Tumors c/o Dr. David Fromm Harper Hospital 3390 John Rd. Detroit, MI 48201 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 (Physicians Data Query), a computerized database designed to give the public, patients, and families, and health professionals quick and easy access to many types of information vital to patients with tumors. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor Islands call collect) For genetic information and genetic counseling referrals: 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 MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 935. CHALLENGES IN THE TREATMENT OF CHILDHOOD FIBROMATOSIS. B. Rao, et al.; ARCH SURG (November 1987; issue 122 (11)). Pp. 1296-1298. NONSURGICAL MANAGEMENT OF CHILDREN WITH RECURRENT OR UNRESECTABLE FIBROMATOSIS. B. Raney, et al.; PEDIATRICS (March 1987; issue 79(3)). Pp. 394-398. INFANTILE (DESMOID TYPE) FIBROMATOSIS WITH EXTENSIVE OSSIFICATION. F. Fromowitz, et al.; AM J SURG PATHOL (January 1987; issue 11(1)). Pp. 66-75. CONGENITAL MULTIPLE FIBROMATOSIS (INFANTILE MYOFIBROMATOSIS). L. Burgess, et al.; ARCH OTOLARYNGOL HEAD NECK SURG (February 1988; issue 114 (2)). Pp. 207-209. REMISSION OF RAPIDLY GROWING DESMOID TUMORS AFTER TAMOXIFEN THERAPY. B. Ritter, et al.; CANCER (December 15, 1983; issue 52 (12)). Pp. 2201-2204.