Bisphosphonate Treatment of Bone Fibrous Dysplasia in McCuneAlbright Syndrome

Lala, Roberto; Matarazzo, Patrizia; Andréo, M; Marzari, Daniela; Bellone, J.; Corrias, Andrea; Sanctis, C. De

doi:10.1515/jpem.2006.19.s2.583

Cited by 32 publications

(27 citation statements)

References 22 publications

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“…Lala et al [13] showed that bisphosphonate treatment decreases the fracture rate and pain in FD. The pathogenesis of FD involves aberrant osteoblast differentiation, leading to the formation of abnormal bone and increased interleukin-6-induced osteoclastic bone resorption; these activities provide the rationale for treating patients with bisphosphonates [14].…”

Section: Discussionmentioning

confidence: 99%

Tamoxifen Improves Final Height Prediction in Girls with McCune-Albright Syndrome: A Long Follow-Up

Passone¹,

Kuperman²,

Menezes-Filho³

et al. 2015

Horm Res Paediatr

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Background: McCune-Albright syndrome (MAS) is a genetic disorder characterized by the triad of fibrous dysplasia, skin hyperpigmentation, and autonomous hyperfunction of various endocrine organs. MAS frequently presents in females as precocious puberty (PP). Although many treatments have been proposed, the preservation of final height (FH) in these patients remains a challenge. Objectives: To evaluate the efficacy of tamoxifen in improving the FH prediction (FHP) in patients with MAS. Method: We retrospectively analyzed 8 female patients with MAS who presented with café-au-lait spots and gonadotropin-independent PP. The patients were followed for a mean period of 8.3 years (range: 3-16). Results: All patients were treated with tamoxifen (10-20 mg/day) for 3-8 years (mean ± SD: 5.75 ± 2.05), which resulted in the cessation of vaginal bleeding and the stabilization of bone age maturation. There was a significant difference between the FHP at the beginning of treatment and at the end of treatment (145.1 ± 8.6 cm; Z score -2.84 ± 1.44 cm) and at the last evaluation (157.0 ± 9.2 cm; Z score -0.85 ± 0.54 cm; p < 0.001). Conclusion: Our results support a role for tamoxifen in improving the FHP in patients with MAS.

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Section: Discussionmentioning

confidence: 99%

Tamoxifen Improves Final Height Prediction in Girls with McCune-Albright Syndrome: A Long Follow-Up

Passone¹,

Kuperman²,

Menezes-Filho³

et al. 2015

Horm Res Paediatr

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“…Medical treatment with bisphosphonates such as pamidronate, used for over 15 years in adults, has now been found to be promising for pediatric patients on both a short- and long-term basis, significantly improving bone pain and decreasing fracture rate with minimal side effects [18,19,20]. After several operations we tried several courses of pamidronate treatment (i.v.)…”

Section: Discussionmentioning

confidence: 99%

Unusual Phenotypical Variations in a Boy with McCune-Albright Syndrome

et al. 2010

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Background: McCune-Albright syndrome (MAS) typically comprises the constellation of polyostotic fibrous dysplasia, café-au-lait spots, and associated endocrinopathies including gonadotropin-independent precocious puberty, excessive growth hormone production and gigantism, hyperthyroidism, and hyperparathyroidism. Objective: We report the unique case of a boy with the diagnostic criteria of MAS accompanied by atypical short stature and macroorchidism without precocious puberty. Patient: An 8.4-year-old prepubertal boy presented with a history of recurrent bone fractures, multiple café-au-lait spots, bilateral macroorchidism, and short stature. X-ray of the extremities was consistent with polyostotic fibrous dysplasia. Serum inhibin B (IB) and anti-müllerian hormone (AMH) were elevated; testosterone, LH, and FSH were normal for age. Results: PCR-based DNA analysis of bone tissue revealed a substitution of arginine for cysteine at position 201 in the G_sα protein resulting in activation of the G_sα subunit. Conclusions: We report a second case of MAS associated with macroorchidism. In this case, isolated Sertoli cell hyperfunction was also associated with microlithiasis and was not associated with peripheral precocious puberty. Short stature not associated with GH-IGF-1 axis abnormality was a second anomalous finding in this case. Our experience suggests that the phenotypic variation in MAS is wider than previously described.

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“…100,101 The use of bisphosphonates in children has shown a good short-term safety profile and is helpful in decreasing bone pain associated with fibrous dysplasia. The impact on long-term prognosis in terms a decreased lesion size, decrease rate of pathologic fracture and deformity is less clear.…”

Section: Treatmentmentioning

confidence: 99%

Pathologic fractures through benign bone lesions in children and adolescents

Cruz

Lindskog

2011

Current Orthopaedic Practice

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Pathologic fractures through benign bone lesions in children and adolescents should be approached in a systematic fashion in order to ensure appropriate management. The etiology, natural history, and treatment of the underlying abnormality must be taken into account when treating these fractures because the treatment of the fracture will often be altered by the presence of the lesion and vice versa. Most pathologic fractures through benign lesions can be treated closed; however, there are certain circumstances in which open treatment is advisable. A thorough and thoughtful evaluation of the patient who presents with a pathologic fracture through a benign lesion will help lead to an optimal outcome.

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Bisphosphonate Treatment of Bone Fibrous Dysplasia in McCuneAlbright Syndrome

Cited by 32 publications

References 22 publications

Tamoxifen Improves Final Height Prediction in Girls with McCune-Albright Syndrome: A Long Follow-Up

Tamoxifen Improves Final Height Prediction in Girls with McCune-Albright Syndrome: A Long Follow-Up

Unusual Phenotypical Variations in a Boy with McCune-Albright Syndrome

Pathologic fractures through benign bone lesions in children and adolescents

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