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$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.