1/5. Fibrous dysplasia of the temporal bone and maxillofacial region associated with cholesteatoma of the middle ear.Fibrous dysplasia of the temporal bone is a rare disease which may lead to progressive stenosis of the external auditory canal and the development of cholesteatoma. We present a case in which minimal symptoms were present despite a massive temporal bone fibrous dysplasia. cholesteatoma resulted most probably secondary to external auditory canal stenosis. Retroauricular fistula developed as a result of destructive effect of cholesteatoma, that influenced previous diagnosis and treatment of this clinically silent disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/5. A rare case of polyostotic fibrous dysplasia assessed by bone scintigraphy with Tc-99m methylene diphosphonate (MDP).A 66-year-old man affected by polyostotic form of fibrous dysplasia in consequence of worsening of lower extremity bone pain aggravated by walking and concomitant increase of serum alkaline phosphatase and osteocalcin, was subjected first to a radionuclide study. Bone scan demonstrated a pathological uptake of the radiotracer in the craniofacial bones, right scapula, left and right posterior ribs, right hemipelvis and lower extremities confirming the diagnosis but establishing especially the extent of bone involvement, greater than expected on the basis of symptoms and X-ray findings, underlying the importance of nuclear medicine imaging in the assessment and follow-up of this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/5. McCune-Albright syndrome with fibrous dysplasia of the paranasal sinuses.We report a 19-year old female patient with the McCune-Albright syndrome, which is a rare disease consisting of polyostotic fibrous dysplasia (FD) of bone associated with brown pigmented areas of the skin and several endocrine dysfunctions. The patient had FD involving the paranasal sinuses, the middle turbinate and the skull. The endocrine dysfunction of the patient concerns both growth hormone and prolactin hypersecretion. Because the patient had no major symptoms, neither surgical nor medical treatment was applied. Five-year follow-up revealed no complication and enlargement of the lesion.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/5. Bone mineral density response to long-term bisphosphonate therapy in fibrous dysplasia.fibrous dysplasia of bone is a rare disease related to a genetic mutation in which bone formation at osseous sites is altered. In the last few years, bisphosphonates have become one of the choice drugs to treat this disease. A 26-yr-old woman presented after 6 wk of spontaneous right leg pain owing to a fissure fracture of the right femoral neck. She reported precocious puberty at the age of 2, with diagnosis of McCune-Albright syndrome. Radioisotope bone scanning, radiographic, biochemical, and densitometric studies were performed. Treatment with bisphosphonates was started because bone turnover biochemical markers were abnormal. Oral olpadronate followed by iv pamidronate substantially decreased bone resorption. Bone mineral density (BMD) of total skeleton and subareas was assessed by dual X-ray absorptiometry (DXA) throughout the 5 yr of treatment. At the end of this period, BMD of the total skeleton had increased 6.2%. However, BMD of the areas most affected by fibrous dysplasia, the legs and pelvis, had increased 12.7 and 11%, respectively. Region of interest analysis of individual bones of the legs performed with the total skeleton scan revealed that BMD of the areas most affected by fibrous dysplasia was lower than that of the less affected contralateral bones. During the first 3 yr, treatment with bisphosphonates substantially increased BMD of the right femur and tibia (22 and 28%, respectively). After that, values seemed to stabilize. DXA evaluation of the total skeleton and its subareas was useful to evaluate the efficacy of bisphosphonate treatment. Moreover, the plateau observed in BMD values after 3 yr of treatment suggests that treatment could have been discontinued when the densitometric values stabilized.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/5. A boy with McCune-Albright syndrome associated with GH secreting pituitary microadenoma. Clinical findings and response to treatment.The McCune-Albright syndrome (MAS) is a sporadic rare disease first described in 1936 by McCune and separately by Albright. MAS is characterized by a triad of physical signs: cafe-au-lait spots, polyostotic fibrous dysplasia and autonomous endocrine hyperfunction. MAS is predominantly observed in girls and is rarely reported in males. We report the case of a 9-year old boy with gonadotropin independent precocious puberty, cafe-au-lait spots, polyostotic fibrous dysplasia and growth hormone hypersecretion.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |