Kemiğin fibröz displazisi ve McCune-Albright sendromu: bir olgu sunumu ve literatürün gözden geçirilmesi

Year 2011, Volume: 33 Issue: 1, 93 - 96, 14.03.2011

Fettah Acıbucu Fatih Kılıçlı Hatice Dökmetaş

Abstract

Özet

Kemiğin Fibröz Displazisi (FD) kemikte ağrı, deformite ve kırığa neden olabilen, genetik, kalıtsal olmayan bir hastalıktır.Nadir görülen McCune-Albright sendromunda (MAS) ise erken puberte ve diğer endokrin anormallikler, “cafe´-au-lait” diye adlandırılan kahverengi lekeler ve FD bulunur. Göğüs ağrısı, erken puberte, “cafe´-au-lait” lekeleri ve tomografide saptanan kosta destrüktif lezyonları olan 32 yaşında kadın hasta sunulmaktadır. Biyopsi FD olduğunu ortaya koydu. Hasta MAS tanısı aldı. Literatür eşliğinde olgu sunulmaktadır.

Anahtar sözcükler: Fibröz displazi, McCune-Albright sendromu, endokrinopati

 

Abstract

Fibrous dysplasia (FD) of bone is a genetic, non-inheritable disease that can cause bone pain, bone deformities and fracture. Early puberty, other endocrinic abnormalities, FD, and skin lesiona called "cafe-au-lait" spots are associated with rare McCune-Albright syndrome (MAS). A 32 yers-old women with chest pain, early puberty, cafe-au-lai skin lesions, dectructive lesions of the costae on tomography is raported. The biopsy revealed FD. The patient had a diagnosis of MAS. The case is presented with a literature review. 

Keywords: Fibrous dysplasia, McCune-Albright syndrome, endocrinopathy

Keywords

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Fibrous Dysplasia of Bone and McCune-Albright Syndrome: A Case Report and Review of the Literature

Abstract

Abstract

Fibrous dysplasia of bone is a genetic, non-inheritable disease, characterized by bone pain, bone deformities and fracture. FD is often asymptomatic. Many patients have limited bone involvement with no or few symptoms. The typical McCune–Albright syndrome associated with FD, endocrine abnormalities (precocious puberty in general) and cafe´-au-lait cutaneous spots.This is the most severe form, but it represents <5% of patients with FD. Paracetamol and non-steroidal anti-inflammatory drugs may be used for mild bone pain. Bisphosphonates have been used in the treatment of fibrous dysplasia. The treatment protocol consisted administration of IV pamidronate every 6 months. Calcium, vitamin D and phosphorus supplements may be useful in some patients. Surgery is also helpful to prevent and treat fracture and deformities.

Key Words: Fibrous dysplasia, McCune–Albright syndrome, bsphosphonates

Keywords

Fibröz displazi, McCune-Albright sendromu, endokrinopati

References

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