$Unique_ID{BRK03781} $Pretitle{} $Title{Gorham's Disease} $Subject{Gorham's Disease Disappearing Bone Disease Gorham's Syndrome Gorham-Stout Syndrome Idiopathic Massive Osteolysis Massive Gorham Osteolysis Massive Osteolysis Morbus Gorham-Stout Disease Progressive Massive Osteolysis Vanishing Bone Disease Osteonecrosis Gaucher Disease Kienboeck Disease Legg-Calve-Perthes Syndrome} $Volume{} $Log{} Copyright (C) 1991 National Organization for Rare Disorders, Inc. 832: Gorham's Disease ** IMPORTANT ** It is possible that the main title of the article (Gorham's Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Disappearing Bone Disease Gorham's Syndrome Gorham-Stout Syndrome Idiopathic Massive Osteolysis Massive Gorham Osteolysis Massive Osteolysis Morbus Gorham-Stout Disease Progressive Massive Osteolysis Vanishing Bone Disease Information on the following disorders can be found in the Related Disorders section of this report: Osteonecrosis Gaucher Disease Kienboeck Disease Legg-Calve-Perthes 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. Gorham's Disease is an extremely rare bone disorder characterized by bone loss often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bone. Symptoms Gorham's Disease is an extremely rare bone disorder. Normally bones replenish themselves through a cycle of bone dissolution and regrowth. In people with Gorham Disease bone loss occurs and progresses in certain areas of the body but no new bone growth takes place. This may occur in just one bone or may spread to adjacent areas of the affected bone. Fibrous tissue may appear in areas of bone loss. If fractures occur, which is common in this disorder, the disease may progress more quickly. Angiomas often occur in Gorham's Disease in conjunction with bone loss. An angioma is abnormal growth of tissue formed by small blood or lymphatic vessels. Angiomas cause swelling. Bone loss may occur in such places as the hand, arm, shoulder, ribs, part of the pelvis (hemipelvis), thighbone (femur), or jaw. When the lower jaw, upper jaw, tooth sockets, or other bones in the face, neck or head are affected possible symptoms may include pain, loose teeth, fractures, facial deformity, and/or recurrent meningitis. (For more information choose "meningitis" as your search term in the Rare Disease Database). In some patients a fluid build-up (pleural effusion) in the space between the membrane that surround each lung and line the chest cavity may occur in conjunction with Gorham's Disease. Causes The exact cause of Gorham's Disease is unknown. Scientists are conducting research to try and identify what causes this disorder. Affected Population Gorham's Disease is an extremely rare bone disorder. It affects males slightly more often than females, and occurs in all age groups. Related Disorders Symptoms of the following disorders can be similar to those of Gorham's Disease. Comparisons may be useful for a differential diagnosis: Osteonecrosis is the destruction of a bone (necrosis) due to an inadequate circulation of blood. It most commonly affects the joints and bones of the hips, knees or shoulder. It often occurs as a result of bone injuries or in conjunction with other diseases and conditions. (For more information on this disorder, choose "Osteonecrosis" as your search term in the Rare Disease Database). Gaucher's Disease is an inherited disease of lipid metabolism caused by the failure to produce the enzyme glucocerebrosidase. There are three types of Gaucher's Disease - Types I, II, and III. In Types I and III bone deterioration is the major problem and can affect any part of the body. Other symptoms of Types I and III may include an enlarged spleen or liver, a low blood count, bone pain, gastric problems or delayed growth. In Type III seizures, mental retardation, abnormal eye movement, or jerking motions of the limbs, head, and upper body may also occur. (For more information on this disorder, choose "Gaucher" as your search term in the Rare Disease Database). Kienboeck Disease is an acquired bone disorder of the wrist caused by inflammation or injury. Degenerative changes of the lunate bone occur such as softening, deterioration, fragmentation or compression. These changes may produce pain, swelling, tenderness, thickening and/or stiffness in the overlying tissues of the wrist. The range of motion may become restricted. Healing occurs through formation of new bone in some cases. (For more information on this disorder, choose "Kienboeck" as your search term in the Rare Disease Database). Legg-Calve-Perthes Syndrome is a rare bone disorder affecting the hip joint. Abnormalities in bone growth early in life may result in permanent deformity of the hip joint several years later. The bone may become shorter than normal, causing a noticeable limp. (For more information on this disorder, choose "Legg-Calve-Perthes" as your search term in the Rare Disease Database). Therapies: Standard Testing for Gorham's Disease includes imaging techniques such as X-rays or computerized tomographic (CT) scans. Diagnosis can be made by biopsy. Gorham's Disease may be treated with radiation therapy, surgery, and/or bone grafting. Drugs may also be prescribed. Fluid build-up (pleural effusion) in the membrane surrounding each lung and lining the chest cavity may be treated by draining the fluid if necessary. Other treatment is symptomatic and supportive. Therapies: Investigational Scientists are trying to find the cause of Gorham's Disease by studying the cells and enzymes which may be related to it. Research is ongoing. This disease entry is based upon medical information available through June 1991. 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 Gorham's Disease, 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 (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 1474-1475. A 20-YEAR FOLLOW-UP STUDY OF A CASE OF SURGICALLY TREATED MASSIVE OSTEOLYSIS. S. Turra, et al.; Clin Orthop (Jan 1990; issue 250). Pp. 297- 302. CYTOCHEMICAL LOCALIZATION OF ALKALINE AND ACID PHOSPHATASE IN HUMAN VANISHING BONE DISEASE. G. R. Dickson, et al.; Histochemistry (1987; issue 87 (6)). Pp. 569-572. "DISAPPEARING BONE DISEASE" IN THE HAND. R. S. Carneiro and V. Steglich; J Hand Surg [Am] (Jul 1987; issue 12 (4)). Pp. 629-634. GORHAM'S DISEASE AFFECTING THE MAXILLOFACIAL SKELETON. Y. Anavi, et al.; Head Neck (Nov-Dec 1989; issue 11 (6)). Pp. 550-557. GORHAM'S SYNDROME: A CASE REPORT AND REVIEW OF THE LITERATURE. N. D. Choma, et al.; Am J Med (Dec 1987; issue 83 (6)). Pp. 1151-1156. MASSIVE GORHAM OSTEOLYSIS OF THE RIGHT HEMIPELVIS COMPLICATED BY CHYLOTHORAX: REPORT OF A CASE IN A 9-YEAR OLD BOY SUCCESSFULLY TREATED BY PLEURODESIS. N. Hejgaard and P. R. Olsen; J Pediatr Orthop (Jan-Feb 1987; issue 7 (1)). Pp. 96-99. MASSIVE OSTEOLYSIS OF THE FEMUR (GORHAM'S DISEASE): A CASE REPORT AND REVIEW OF THE LITERATURE. A. A. Mendez, et al.; J Pediatr Orthop (Sep-Oct 1989; issue 9 (5)). Pp. 604-608. RADIOTHERAPY OF MORBUS GORHAM-STOUT: THE BIOLOGICAL VALUE OF LOW IRRADIATION DOSE. L. Handl-Zeller and G. Hohenberg; Br J Radiol (Mar 1990; issue 63 (747)). Pp. 206-208.