$Unique_ID{BRK03685} $Pretitle{} $Title{Dysplasia, Polyostotic Fibrous} $Subject{Dysplasia, Polyostotic Fibrous Monostotic Fibrous Dysplasia Jaffe-Lichenstein Neurofibromatosis Type I Von Recklinghausen Disease Peripheral Neurofibromatosis} $Volume{} $Log{} Copyright (C) 1991 National Organization for Rare Disorders, Inc. 838: Dysplasia, Polyostotic Fibrous ** IMPORTANT ** It is possible that the main title of the article (Polyostotic Fibrous Dysplasia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Disorder Subdivisions: Monostotic Fibrous Dysplasia (Jaffe-Lichenstein) Information on the following diseases can be found in the Related Disorders section of this report: Neurofibromatosis, Type I ( Von Recklinghausen Disease or Peripheral 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. Polyostotic Fibrous Dysplasia is a rare disorder of the soft marrow-like structure of the bone (medullary bone) in which benign cystic lesions occur as a result of irregular bone development. These lesions are present during childhood but not usually discovered until much later. This disorder involves multiple bones and often is associated with early sexual development (precocious puberty) and skin pigmentation (cafe' au lait spots). When all three symptoms are present the disease is known as McCune-Albright Syndrome. Symptoms Patients with Polyostotic Fibrous Dysplasia have abnormal fibrous tissue growth of the bone which may be progressively painful, disabling, and deforming. The areas that seem to be affected most often are the legs, femora, facial bones, mandible, and the base of the skull. These lesions are often discovered when a patient has had a spontaneous fracture or a fracture after a minor injury. Deformity of the femur and a difference in leg lengths (known as "shepherd's-crook) may also be apparent. Skin abnormalities may be another symptom of Polyostotic Fibrous Dysplasia. Skin discoloration may be present on the upper spine, buttocks and sacrum. These spots usually have a dark pigmentation and are flat, hairless, notched around the edges and do not go above the midline. The skin discolorations are called "cafe' au lait spots" and are usually on the same side of the body as the bone lesions. Early puberty occurs in a large percentage of girls with Polyostotic Fibrous Dysplasia and less frequently among boys. About fifty percent of the females with fibrous dysplasia have early sexual development (precocious puberty) which can lead to rapid bone maturation although height as an adult may be less than normal. Often there is a low sex hormone level (gonadotropin level) in both sexes and fertility may not occur. In females menstruation may be meager and irregular and occur as much as seven years prior to other sexual development. Usually ovulation and regular periods occur at the normal age and fertility is not hindered. Ovarian cysts may occur in some cases. Other symptoms of Polyostotic Fibrous Dysplasia may include an elevation of growth hormone, diabetes mellitus (a metabolic disease in which the utilization of carbohydrates is reduced while the utilization of protein and lipid are enhanced), over active thyroid (hyperthyroidism), obesity and muscular weakness caused by an adrenal or pituitary dysfunction (Cushing's syndrome), vitamin D-resistant rickets, obliteration of nasal sinuses and optic atrophy. McCune Albright Syndrome is a multi-system disorder primarily characterized by abnormal fibrous tissue development (dysplasia) in one or more bone, abnormally early puberty, and brown (cafe' au lait) spots on the skin. Other symptoms may include an over-active thyroid gland (hyperthyroidism), and a variety of bone and soft tissue tumors. (For more information on this disease choose "McCune-Albright" as your search term in the Rare Disease Database.) When a single bone is affected with fibrous dysplasia it is referred to as Monostotic Fibrous Dysplasia. McCune Albright Syndrome is not present in this form of the disease. Causes The exact cause of Polyostotic Fibrous dysplasia is not known. Most cases seem to occur sporadically. Some scientists have reported that they suspect this disorder may be inherited, but this has not yet been proven. The early (false or pseudoprecocious) puberty in females with McCune-Albright syndrome may be linked to increased ovarian function caused by increased thyroid gland function (hyperthyroidism). Affected Population Polyostotic Fibrous Dysplasia seems to affect males and females both equally. About fifty percent of the females with Fibrous Dysplasia have McCune- Albright Syndrome with early sexual development. Related Disorders Symptoms of the following disorders can be similar to those of Polyostotic Fibrous Dysplasia. Comparisons may be useful for a differential diagnosis: Neurofibromatosis (NF), Type I, also known as Von Recklinghausen's Disease or Peripheral Neurofibromatosis, is characterized by multiple brown (cafe-au-lait) colored spots on the skin, nerve tumors of varying sizes under the skin, and curvature of the spine or other bones. Disturbances of puberty may also occur. This disorder is inherited as an autosomal dominant trait, whereas the exact cause of Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome is not known. The discolorations of the skin found in Neurofibromatosis I patients are different from those found in McCune Albright Syndrome patients. (For more information on this disease choose Neurofibromatosis in as your search term in the Rare Disease Database) Therapies: Standard Treatment of Polyostotic Fibrous Dysplasia is symptomatic and supportive. Packing with bone chips and scraping (curettage) of the lesions may be used although it has been found that in patients under 18 years of age this procedure (when used on lower extremities) is usually unsatisfactory. The same procedure used on patients over 18 years of age has been found to have satisfactory results. Stabilizing the bone with surgical wires, screws, pins or plates (internal fixation) may be use on lesions in the lower extremities of patients under 18 years of age. For control of the deformities caused by lesions, and to prevent further fractures, the use of a Zickel nail has been found to be useful. The drug medroxyprogesterone may be used for treatment of sexual precocity. Therapies: Investigational There are several experimental drugs being tested for treatment of McCune- Albright Syndrome which is sometimes associated with Polyostotic Fibrous Dysplasia. To learn about these drugs see the "Investigational Therapies" section of the McCune-Albright Syndrome entry in the Rare Disease Database.) This disease entry is based upon medical information available through February 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 Polyostotic Fibrous Dysplasia, please contact: National Organization of Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Adrenal Diseases Foundation 505 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 The (Paget's Disease Foundation (and other diseases of bone resorption) 200 Varick St., Suite 1004 New York, NY 10014-4810 (212) 229-1582 (800) 23-PAGET The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2117-8. CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 1519-20. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Ed; Blackwell Scientific Publications., 1990. Pp. 739-40. FIBROUS DYSPLASIA. AN ANALYSIS OF OPTIONS FOR TREATMENT: R.B. Stephenson, et al.; J Bone Joint Surg (Am); (Mar 1987, issue 69(3)). Pp. 400-9. FIBROUS DYSPLASIA OF BONE: B.E. Stompro, et al.; Am Fam Physicians; (Mar 1989 issue 39(3)). Pp. 1979-84 MULTIPLE OSTEOTOMIES WITH ZICKEL NAIL FIXATION FOR POLYOSTOTIC FIBROUS DYSPLASIA INVOLVING THE PROMIMAL PART OF THE FEMUR: B.H. Freeman, et al.; J Bone Joint Surg (Am); (Jun 1987 issue 69(5)). Pp. 691-8. McCUNE-ALBRIGHT SYNDROME: THE PATTERNS OF SCINTIGRAPHIC ABNORMALITIES: S. Pfeffer, et al.; J Nucl Med; (Sept 1990 issue 31(9)). Pp. 1471-8.