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Persistence of cherubism
ABSTRACTS / Bone 40 (2007) S1–S17
Persistence of cherubism Fernández MC, Parisi MS, Oliveri B. 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 the mandible and maxilla. This leads to bilateral expansion of these areas. It's a self-limiting disease that begins in childhood, progresses until puberty and regresses by middle age. Since spontaneous involution was recognized, treatment of cherubism has not been standardized. A 41 year-old woman was referred with extensive mandibular growth. All dental pieces were missing. Based on typical features and her family 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 0.814 g/cm 2 ; Z-score −3.2; femoral neck 2 0.732 g/cm ; Z-score −1.9). She reported two wrist fractures at 36. Serum calcium, phosphorus, 25OHD and intact PTH were normal. Elevated serum levels of bone alkaline phosphatase (BAP 233 UI/l) and crosslaps (CTX 1,500 ng/ml) were detected. Hormonal status was postmenopausal. We indicated intravenous pamidronate (180 mg every 6 months), vitamin D and calcium. After two cycles (12 months), CTX levels dropped by 63% and BAP 19%. No morphological changes were detected. New X-rays and bone densitometry are pending. Discussion: a gradual regression of cherubism has been reported until puberty, as a result of the increase in sex hormone levels. 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 disease regression. The impact of reduced bone turnover on bone mineral density and facial lesions must be evaluated. doi:10.1016/j.bone.2006.12.044
Quantifying the porosity of mandible cortex in adults under orthodontic treatment Montangero V, Harffin J, Capiglioni R, Roldán EJA. Departamento de Osteología y Carrera Especial; Ortodoncia. Universidad Maimónides, Buenos Aires. The mandible shows an atypical metabolism with great qualiquantitative variations. We studied here the impact of chronic changes in the mechanical loading caused by orthodontics on the material quality of the neighboring cortex. Maxillary assessments by pQCT densitometry (Stratec, Germany) were performed in 18 women, aged 42–64 years, including 5 with 2year orthodontic treatment, all without osteoporosis or important risk factors, and receiving no osteotropic medications. The mandible scans were performed at 10 mRem, 20 mm/s, and were positioned at a level below interference factors, such as orthodontics or prosthesis. The pQCT software allowed to select
S15
the cortex besides dentulous areas. Selected areas were analyzed by thresholds of 0, 200, 500, 700, 900, 1100, and 1500 mg, and the percentage of low and high density areas were then recorded, taking the 0 mg value as total area (At). Among patients without orthodontics, 2 subgroups could clearly be distinguished: one with small areas (11.9 ± 4.5% from the At; n = 5) and the other with great areas (35.9 ± 5.5% from the At, n = 8) of low mineral density (< 500 mg; p < 0.0001, t test). The latter presented idiopathic regional osteoporosis. The 5 patients with orthodontics showed areas with intermediate values of 29.1 ± 8.6% from the At (p < 0.05 vs. normal and vs. untreated osteoporotic patients, ANOVA). One presented 52.5% of low density areas. The results showed no significant differences in the analysis of high density areas (> 500 mg, all <11%) between groups. The original finding is the presence of different degrees of osteoporosis in the cortex adjacent to the tooth piece affected by orthodontics, that can be attributed to a physiological effect or a latent pathology expressed by the mechanic odontological impact. doi:10.1016/j.bone.2006.12.045
Ectopic production of parathyroid hormone by a thymic carcinoma Diehl M, Galich A, Pechín A, D'Alurzo M, Specterman S, Redal MA, Plantalech L. Servicios de Endocrinología, Anatomía Patológica, Oncología e Instituto de Biología y Medicina Experimental. Hospital Italiano de Buenos Aires. Hypercalcemia resulting from ectopic secretion of parathyroid hormone (PTH) has been described in few patients with cancer and in one patient with thymoma. A 79 year-old man with nephrolitiasis, chronic renal failure and cardiovascular disease was admitted with hypercalcemia (14.4 mg%) and elevated PTH (1297 pg/ml). Severe hyperparathyroidism was diagnosed. The cervical ultrasonography informed a 20 mm nodular image compatible with an abnormal parathyroid gland. Imaging with Tc-99-sestamibi showed high uptake in the sternal bone. He was treated with volume expansion, calcitonin and bisphosphonates. The parathyroidectomy was delayed due to cardiologic contraindication (coexisting carotid and coronary stenosis that required revascularization). During the coronary artery bypass surgery a mediastinal infiltrating mass was found and partial resection was performed. A thymic carcinoma was diagnosed with positive inmunohistochemistry for PTH, CD5 and glial cell missing (GCM)A. The GCM proteins are promoters of parathyroid differentiation (GCMB) and thymic PTH-producing cells (GCMA). In order to clarify the origin of the PTH secretion we searched for PTH and GCM mRNA expression in cells from the cervical nodule. Positive results were obtained for PTH and GCMA. The patient required calcium supplementation in the postoperative period (hungry bone syndrome) and in the following months high doses of bisphosphonates were administered for progressive hypercalcemia. Radiotherapy was indicated. Treatment with cinacalcet was proposed. We
Persistence of cherubism Fernández MC, Parisi MS, Oliveri B. 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 the mandible and maxilla. This leads to bilateral expansion of these areas. It's a self-limiting disease that begins in childhood, progresses until puberty and regresses by middle age. Since spontaneous involution was recognized, treatment of cherubism has not been standardized. A 41 year-old woman was referred with extensive mandibular growth. All dental pieces were missing. Based on typical features and her family 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 0.814 g/cm 2 ; Z-score −3.2; femoral neck 2 0.732 g/cm ; Z-score −1.9). She reported two wrist fractures at 36. Serum calcium, phosphorus, 25OHD and intact PTH were normal. Elevated serum levels of bone alkaline phosphatase (BAP 233 UI/l) and crosslaps (CTX 1,500 ng/ml) were detected. Hormonal status was postmenopausal. We indicated intravenous pamidronate (180 mg every 6 months), vitamin D and calcium. After two cycles (12 months), CTX levels dropped by 63% and BAP 19%. No morphological changes were detected. New X-rays and bone densitometry are pending. Discussion: a gradual regression of cherubism has been reported until puberty, as a result of the increase in sex hormone levels. 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 disease regression. The impact of reduced bone turnover on bone mineral density and facial lesions must be evaluated. doi:10.1016/j.bone.2006.12.044
Quantifying the porosity of mandible cortex in adults under orthodontic treatment Montangero V, Harffin J, Capiglioni R, Roldán EJA. Departamento de Osteología y Carrera Especial; Ortodoncia. Universidad Maimónides, Buenos Aires. The mandible shows an atypical metabolism with great qualiquantitative variations. We studied here the impact of chronic changes in the mechanical loading caused by orthodontics on the material quality of the neighboring cortex. Maxillary assessments by pQCT densitometry (Stratec, Germany) were performed in 18 women, aged 42–64 years, including 5 with 2year orthodontic treatment, all without osteoporosis or important risk factors, and receiving no osteotropic medications. The mandible scans were performed at 10 mRem, 20 mm/s, and were positioned at a level below interference factors, such as orthodontics or prosthesis. The pQCT software allowed to select
S15
the cortex besides dentulous areas. Selected areas were analyzed by thresholds of 0, 200, 500, 700, 900, 1100, and 1500 mg, and the percentage of low and high density areas were then recorded, taking the 0 mg value as total area (At). Among patients without orthodontics, 2 subgroups could clearly be distinguished: one with small areas (11.9 ± 4.5% from the At; n = 5) and the other with great areas (35.9 ± 5.5% from the At, n = 8) of low mineral density (< 500 mg; p < 0.0001, t test). The latter presented idiopathic regional osteoporosis. The 5 patients with orthodontics showed areas with intermediate values of 29.1 ± 8.6% from the At (p < 0.05 vs. normal and vs. untreated osteoporotic patients, ANOVA). One presented 52.5% of low density areas. The results showed no significant differences in the analysis of high density areas (> 500 mg, all <11%) between groups. The original finding is the presence of different degrees of osteoporosis in the cortex adjacent to the tooth piece affected by orthodontics, that can be attributed to a physiological effect or a latent pathology expressed by the mechanic odontological impact. doi:10.1016/j.bone.2006.12.045
Ectopic production of parathyroid hormone by a thymic carcinoma Diehl M, Galich A, Pechín A, D'Alurzo M, Specterman S, Redal MA, Plantalech L. Servicios de Endocrinología, Anatomía Patológica, Oncología e Instituto de Biología y Medicina Experimental. Hospital Italiano de Buenos Aires. Hypercalcemia resulting from ectopic secretion of parathyroid hormone (PTH) has been described in few patients with cancer and in one patient with thymoma. A 79 year-old man with nephrolitiasis, chronic renal failure and cardiovascular disease was admitted with hypercalcemia (14.4 mg%) and elevated PTH (1297 pg/ml). Severe hyperparathyroidism was diagnosed. The cervical ultrasonography informed a 20 mm nodular image compatible with an abnormal parathyroid gland. Imaging with Tc-99-sestamibi showed high uptake in the sternal bone. He was treated with volume expansion, calcitonin and bisphosphonates. The parathyroidectomy was delayed due to cardiologic contraindication (coexisting carotid and coronary stenosis that required revascularization). During the coronary artery bypass surgery a mediastinal infiltrating mass was found and partial resection was performed. A thymic carcinoma was diagnosed with positive inmunohistochemistry for PTH, CD5 and glial cell missing (GCM)A. The GCM proteins are promoters of parathyroid differentiation (GCMB) and thymic PTH-producing cells (GCMA). In order to clarify the origin of the PTH secretion we searched for PTH and GCM mRNA expression in cells from the cervical nodule. Positive results were obtained for PTH and GCMA. The patient required calcium supplementation in the postoperative period (hungry bone syndrome) and in the following months high doses of bisphosphonates were administered for progressive hypercalcemia. Radiotherapy was indicated. Treatment with cinacalcet was proposed. We