Doença de Paget do complexo crânio - maxilo - facial: revisão crítica da literatura / Paget's Disease of the craniomaxillofacial complex: a critical literature review

As lesões fibro-ósseas fazem parte de um grupo heterogêneo composto por lesões de desenvolvimento, processos displásicos e reativos bem como neoplasias. A doença de Paget é uma alteração esquelético idiopática crônica que consiste na alteração da atividade osteoclástica de um ou mais grupos de ossos, que desencadeia uma formação óssea desordenada, gerando a hipertrofia óssea, sendo mais freqüente nos ossos do crânio e coluna vertebral. Possui maior prevalência em indivíduos da terceira idade, de etiologia ainda desconhecida, sendo descoberta incidentalmente, por exames radiológicos, devido ao aumento da taxa de hidroxiprolina na urina ou o achado de níveis séricos de fosfatase alcalina elevados. O espectro clínico da doença de Paget é muito variável, dependendo dos locais acometidos, do grau das deformidades e da intensidade da atividade metabólica. Pacientes com dor ou deformidades ósseas devem ser investigados quanto à possibilidade de doença de Paget devido a sua pouca especificidade. Neste trabalho, os autores produziram a revista de literatura, enfocando os aspectos clínicos, imaginológicos, laboratoriais, histopatológicos e tratamento da doença de Paget, enfatizando a divulgação desta afecção que, rotineiramente, se apresenta com sinais subclínicos.

A Korean Pedigree of Paget Bone Disease / 대한내분비학회지

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.