Best Examination Tips: Medcase, Interesting Medical Cases and Pictures

  • Sunday, July 7th, 2013

Case 25/Picture 27 (05.07.2015.) Could you identify the condition?

Polyostotic fibrous dysplasia


“Polyostotic fibrous dysplasia: A disorder that features the replacement of multiple areas of bone by fibrous tissue, which may cause fractures and deformity of the legs, arms, and skull. A genetic disorder that is characterized by polyostotic fibrous dysplasia along with skin pigmentation and hormonal problems, with premature sexual development, is known as McCune-Albright’s syndrome. The flat areas of increased skin pigment are called caf’ au lait spots. The hormonal problems that can be related to polyostotic fibrous dysplasia include early puberty (with premature menstrual bleeding and development of breasts and pubic hair), thyroid abnormalities, and an increased rate of growth.”


“What is Fibrous Dysplasia?

Fibrous dysplasia (FD) is a bone disease characterized by areas of abnormal growth or lesions in one, several, or many bones. FD can occur in any bone. The skull frequently is affected as are legs, arms, and ribs. The majority (about 70%) of people with FD have only one bone site involved, a condition called monostotic FD. When FD is in more than one bone it is called polyostotic FD or PFD. About 10% of those with polyostotic FD have some associated endocrine (hormonal) problems including precocious puberty and areas of increased skin pigment called cafe-au-lait marks. These birthmarks have irregular borders like the coast of Maine and, like the bone lesions, may be primarily on one side of the body. The combination of polyostotic fibrous dysplasia, endocrine disorders, and café-au-lait marks is called McCune Albright Syndrome (MAS).

Is Fibrous Dysplasia hereditary?

FD is not hereditary. We did not get FD from our parents and we cannot pass it on to our children. FD is caused by a mutation that occurs sometime during development of a baby while it is still in the mother’s uterus. If the mutation occurs early in development, many tissues may be affected. If it occurs late in development, very few tissues may have the mutation. Because the mutation occurs before birth, FD is considered a genetic disease. But unlike almost all other diseases it is not hereditary because it cannot exist in sperm or egg cells.”


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