osteodystrophia fibrosa

McCune-Albright syndrome

An autosomal dominant condition (OMIM:174800) due to altered regulation of cAMP, endocrinopathy (e.g., hyperthyroidism) and hypophosphatemia.

Clinical findings
Precocious puberty, polyostotic (cystic fibrous dysplasia) spontaneous fractures at young age, café-au-lait spots on skin, ovarian cysts.
 
Lab
Cyclical 4–6-week fluctuations of plasma oestrogen; afflicted young girls have decreased gonadotropins, decreased response to LH-RH; increased testosterone, increased alkaline phosphatase.
 
Molecular pathology
Defects in GNAS, which encodes a G protein that modulates various membrane signalling cascasdes, cause McCune-Albright syndrome.

Management
Aromatase inhibitor testolactone.
References in periodicals archive ?
Osteodystrophia fibrosa: report of a case in which the condition was combined with precocious puberty, pathologic pigmentation of the skin and hyperthyroidism, with a review of the literature.
Further pathologic disorders included encephalopathy (2 birds; 33%), ingluvitis (1 bird; 17%), severe polyserositis from bacterial septicemia (1 bird; 17%), and a severe osteodystrophia fibrosa as well as inflammation of the uropygial gland (1 bird; 17%).
Osteodystrophia fibrosa. Report of a case in which the condition was combined with precocious puberty, multiple pigmentation of the skin and hyperthyroidism.
Muller, "Clinical, radiological and laboratory investigation of osteodystrophia fibrosa in guinea pigs (Cavia porcellus) of the satin breed," Kleintierpraxis, vol.
Fehr, "Course of Osteodystrophia fibrosa generalisata in a satin guinea pig," Schweizer Archiv fur Tierheilkunde, vol.
Johnston, "Osteodystrophia fibrosa in two guinea pigs," Journal of the American Veterinary Medical Association, vol.
Osteodystrophia fibrosa is important disease in equines, primarily occurs due to excessive feeding of phosphorus rich diet in which Ca : P ratio is 1 : 2.9 or more (Krook and Lowe, 1964).
Overall 6.95% prevalence of osteodystrophia fibrosa in equids of Jammu region, in mules the prevalence was 7.14% while in horses 6.06%.
Oral supplementation of liquid calcium along with vitamin supplementation had been recommended in the treatment of secondary calcium deficiency as occurs in Osteodystrophia fibrosa and withdrawal of phosphorus rich diet such as wheat bran and rice bran which are rich in phosphorus and supplementation of green fodder and wheat straw and concentrate diet (balanced ration) had been found to be effective.
Fibrous dysplasia of the bone (Jaffe-Lichtenstein syndrome, osteodystrophia fibrosa) was first described by Lichtenstein in 1938.