J Korean Soc Endocrinol.
1995 Dec;10(4):451-455.
A Korean Pedigree of Paget Bone Disease
Abstract
- Paget bone disease(PBD) is usually focal, but can be wide spread disorder of the skeletal remodeling characterized by greatly increased osteoclast size and activity. It has extremely variable prevalence worldwide, being common in England and northern European countries and areas populated by their descendants, but strikingly uncommon in Asia, the middle east, Africa and Scandinavia. It's occurrence also shows familial clustering, some postulates autosomal dominant inheritance. Many studies have shown that paramyxoviruses may play a critical role in the etiology of this disorder. However, the precise etiology of PBD remains unknown.We describe a kindred with PBD in 3 successive generations. The propositus, a 55-year-old man, has panostotic PBD and giant cell reparative granuloma of pagets disease involving his head, mandible, abdomen and ileum, rare tumorous complication of Paget's disease. Bowed limbs were first noticed at age 25 years, and progressed for 20 years. Giant cell reparative granuloma began manifesting at age 45 years, and responded dramatically to high-dose dexamethasone therapy. His pretreatment biochemical finding were remarkable for elevated serum ALP, 765(normal 66-220 u/L) and osteocalcin, 154(normal 6.3-30.7 mg/ml), but normal serum calcium, phosphorous, 250HD and PTH. A nondecalcified iliac crest specimen demonstrated classic histopathologic 25OHD and PTH. A nondecalcified iliac crest specimen demonstrated classic histopathologic changes of PBD on light microscopy. His decreased father had a similar degree of bony deformities beginning at age 20 years, but had not been examined. His two asymptomatic daughters, 20 and 24-year-old, were both found to be affected with widespread PBD by bone scan, radiographic study, and their serum ALP levels, 939 and 435U/L, respectively. This is the first report of familial occurance of PBD and a case of giant cell reparative granuloma of Paget's disease in Korea, where PBD is very rare.
MeSH Terms
-
Abdomen
Africa
Asia
Bone Diseases*
Calcium
Congenital Abnormalities
Dexamethasone
England
Extremities
Family Characteristics
Fathers
Giant Cells
Granuloma
Head
Humans
Ileum
Korea
Mandible
Microscopy
Middle Aged
Middle East
Nuclear Family
Osteocalcin
Osteoclasts
Pedigree*
Prevalence
Scandinavian and Nordic Countries
Wills
Young Adult
Calcium
Dexamethasone
Osteocalcin
