Persistence of cherubism

FERNANDEZ C; PARISI MS; OLIVERI B

Rosario Argentina

Congreso; Reunión Anual de la Asociación Argentina de Osteología y Metabolismo Mineral; 2006

Asociación Argentina de Osteología y Metabolismo Mineral

PERSISTENCE OF CHERUBISM Fernandez María C, Parisi Muriel S, Oliveri Beatriz Sección Osteopatías Médicas, Hospital de Clínicas, Universidad de Buenos Aires, Argentina. Cherubism is a rare hereditary disease, characterized by bone degradation and fibrous tissue replacement at mandible and maxilla. This leads to a bilateral expansion of these areas. It’s a self-limiting disease. Begins at childhood, progresses until puberty and regresses by middle age. Since spontaneous involution was recognized, treatment of cherubism has not been standardized. A 41 years old woman was referred with extensive mandibular growth. All dental pieces were missing. Based on her typical feature and the familial history (mother and grandmother, with spontaneous regression), diagnosis of cherubism was suspected. Age of menarche: 17. Hysterectomy when she was 19. X-Rays showed multiple extensive radiolucent areas in the maxilla. BMD (DXA, Lunar DPX) was reduced (lumbar spine: 0.814gr/cm2; Z score -3.2; femoral neck: 0.732gr/cm2; Z score -1.9). She reported two wrist fractures at 36. Serum calcium, phosphorus, 250HD and intact PTH were normal. Elevated serum levels of bone alkaline phosphatase (BAP:233UI/l) and crosslaps (CTX:1500ng/ml) were detected. Hormonal status was postmenopausal. We indicated intravenous pamidronate (180mg every 6 months), vitamin D and calcium. After two cycles (12 months), CTX levels dropped 63% and BAP 19%. No morphological changes were detected. New X-Rays and bone densitometry are pending.  Discussion: It has been reported a gradual regression until puberty result of the increase of sex hormones rates. The short time of exposition to estrogens in our patient (late age of menarche and early age of menopause), could have been an important cause of absence of the disease regression. The impact of reduced bone turnover on bone mineral density and facial lesions, must be evaluated.