$Unique_ID{BRK04141} $Pretitle{} $Title{Proteus Syndrome} $Subject{Proteus Syndrome Partial Gigantism of Hands and Feet, Nevi, Hemihypertrophy, Macrocephaly Bannayan-Zonana Syndrome Cowden Syndrome (Multiple Hamartoma Syndrome) Klippel-Trenaunay Syndrome Maffucci Syndrome Neurofibromatosis Nevus Sebaceus of Jadassohn Ollier Disease} $Volume{} $Log{} Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 579: Proteus Syndrome ** IMPORTANT ** It is possible that the main title of this article (Proteus Syndrome) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Partial Gigantism of Hands and Feet, Nevi, Hemihypertrophy, Macrocephaly Information on the following disorders can be found in the Related Disorders section of this report: Bannayan-Zonana Syndrome Cowden Syndrome (Multiple Hamartoma Syndrome) Klippel-Trenaunay Syndrome Maffucci Syndrome Neurofibromatosis Nevus Sebaceus of Jadassohn Ollier Disease 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 physician and/or the agencies listed in the "Resources" section of this report. Proteus Syndrome is a very rare hereditary disorder characterized by multiple lesions of the lymph vessels (lipolymphohemangiomas), overgrowth of one side of the body (hemihypertrophy), an abnormally large head (macrocephaly), partial gigantism of the feet, and abnormal coffee-colored (cafe-au-lait) spots on the skin. Symptoms Proteus Syndrome is present at birth and is characterized by many fatty lesions of enlarged cystic lymph vessels, overgrowth of one side of the body, an excessively large head, overgrowth of hands or feet, and coffee-colored (cafe-au-lait) spots on the skin. Areas of the tongue can become enlarged with longer than normal elevations (papillae). Abnormal growths in the abdominal cavity may occur in some cases. Causes Proteus Syndrome is an autosomal dominant hereditary disorder. (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 other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.) Affected Population Proteus Syndrome is present at birth, and affects males and females in equal numbers. Related Disorders Symptoms of the following disorders may be similar to those of Proteus Syndrome. Comparisons can be useful for a differential diagnosis: Bannayan-Zonana Syndrome (Macrocephaly, Multiple Lipomas and Hemangiomas) is a hereditary disorder characterized by an enlarged head (macrocephaly), multiple fatty growths (lipomas) in the abdominal cavity and other areas, and abnormal growths (tumors) of the blood vessels (hemangiomas). Cowden Syndrome (Multiple Hamartoma Syndrome) is a hereditary disorder characterized by multiple nodules composed of an overgrowth of mature cells and tissues that occur in the affected part of the body. Often one kind of cell or tissue predominates (hamartomas). Klippel-Trenaunay Syndrome is thought to be a hereditary disorder combining a birth mark which is the color of a port wine stain (nevus flammeus), excessive growth of soft tissue and bone, and varicose veins. Cases may range from mild to severe. The disorder usually starts before birth or during early childhood. (For more information, choose "Klippel" as your search term in the Rare Disease Database.) Maffucci Syndrome (Multiple Angiomas and Endochondromas; Kast Syndrome; Hemangiomatosis Chondrodystrophica) is a rare inborn 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. (For more information, choose "Maffucci" as your search term in the Rare Disease Database.) Neurofibromatosis (Elephant Man Disease; Von Recklinghausen Disease; NF I and NF II) is a hereditary disorder with highly variable symptoms which can affect many body systems. Symptoms usually start during childhood. The disorder tends to become more active at puberty, during pregnancy, and at menopause. It is characterized by multiple nerve tumors under the skin which can result in disfigurement, cafe-au-lait spots on the skin, curvature of the spine and long bones, malformation of bones and other complications. (For more information, choose "Neurofibromatosis" as your search term in the Rare Disease Database.) Nevus Sebaceus of Jadassohn (Linear Sebaceous Nevus Syndrome) is a portwine-like spot on the scalp or less often the face, which often grows larger during puberty or early adult life. It may, in rare cases, give rise to a variety of new growths, including a skin cancer known as basal cell carcinoma. Ollier Disease (Multiple Cartilaginous Enchondroses) is a rare disorder characterized by abnormal development of the bones (skeletal dysplasia) usually beginning during childhood. The disorder affects bone and cartilage in joints of the arms and legs. Dwarfism may be present if both sides of the body are affected. (For more information, choose "Ollier" as your search term in the Rare Disease Database.) Therapies: Standard Some growths and bone malformations occurring in patients with Proteus Syndrome can be removed or corrected surgically. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through November 1988. 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 Proteus Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For information on genetics 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 PROTEUS SYNDROME: THE ELEPHANT MAN DIAGNOSED: J.A.R. Tibbles, et al.; British Med Journal (1986: issue 293). Pp. 683-685. THE PROTEUS SYNDROME: PARTIAL GIGANTISM OF THE HANDS AND/OR FEET, NEVI, HEMIHYPERTROPHY, SUBCUTANEOUS TUMORS, MACROCEPHALY OR OTHER SKULL ANOMALIES AND VISCERAL AFFECTIONS: H.R. Wiedemann, et al.; Eur Journal Pediatr (1983: issue 140). Pp. 5-12. PROTEUS SYNDROME: REPORT OF TWO CASES WITH PELVIC LIPOMATOSIS: T Costa, et al.; Pediatrics (1985: issue 76). Pp. 984-989. PROTEUS SYNDROME OR ANOTHER HAMARTOSIS?: Boris G. Kousseff; Journal Clin Dysmorphol (1984: issue 2(3)). Pp. 23-26. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 638.