Kemiğin fibröz displazisi ve McCune-Albright sendromu: bir olgu sunumu ve literatürün gözden geçirilmesi
Öz
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
Anahtar Kelimeler
Kaynakça
- Chapurlat RD, Orcel P. Fibrous dysplasia of bone and McCune-Albright syndrome. Best Pract Res Clin Rheumatol 2008; 22: 55-69.
- Shenker A, Weinstein LS, Moran A, Pescovitz OH, Charest NJ, Boney CM, Van Wyk JJ, Merino MJ, Feuillan PP, Spiegel AM. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr 1993; 123: 509-18.
- Sargin H, Gozu H, Bircan R, Sargin M, Avsar M, Ekinci G, Yayla A, Gulec I, Bozbuga M, Cirakoglu B, Tanakol R. A case of McCune-Albright syndrome associated with Gs alpha mutation in the bone tissue. Endocr J 2006; 53: 35-44.
- Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991; 325: 1688-95.
- Weinstein LS, Chen M, Liu J. Gs (alpha) mutations and imprinting defects in human disease. Ann N Y Acad Sci 2002; 968: 173-97.
- Bianco P, Robey P. Diseases of bone and the stromal cell lineage. J Bone Miner Res 1999; 14: 336-41.
- Feller L, Wood NH, Khammissa RA, Lemmer J, Raubenheimer EJ. The nature of fibrous dysplasia. Head Face Med 2009; 5: 22.
- Yao L, Eckardt JJ, Seeger LL. Fibrous dysplasia associated with cortical bony destruction: CT and MR findings. J Comput Assist Tomogr 1994; 18: 91-4.
- Utz JA, Kransdorf MJ, Jelinek JS, Moser RP Jr, Berrey BH. MR appearance of fibrous dysplasia. J Comput Assist Tomogr 1989; 13: 845-51.
Öz
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
Anahtar Kelimeler
Kaynakça
- Chapurlat RD, Orcel P. Fibrous dysplasia of bone and McCune-Albright syndrome. Best Pract Res Clin Rheumatol 2008; 22: 55-69.
- Shenker A, Weinstein LS, Moran A, Pescovitz OH, Charest NJ, Boney CM, Van Wyk JJ, Merino MJ, Feuillan PP, Spiegel AM. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr 1993; 123: 509-18.
- Sargin H, Gozu H, Bircan R, Sargin M, Avsar M, Ekinci G, Yayla A, Gulec I, Bozbuga M, Cirakoglu B, Tanakol R. A case of McCune-Albright syndrome associated with Gs alpha mutation in the bone tissue. Endocr J 2006; 53: 35-44.
- Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991; 325: 1688-95.
- Weinstein LS, Chen M, Liu J. Gs (alpha) mutations and imprinting defects in human disease. Ann N Y Acad Sci 2002; 968: 173-97.
- Bianco P, Robey P. Diseases of bone and the stromal cell lineage. J Bone Miner Res 1999; 14: 336-41.
- Feller L, Wood NH, Khammissa RA, Lemmer J, Raubenheimer EJ. The nature of fibrous dysplasia. Head Face Med 2009; 5: 22.
- Yao L, Eckardt JJ, Seeger LL. Fibrous dysplasia associated with cortical bony destruction: CT and MR findings. J Comput Assist Tomogr 1994; 18: 91-4.
- Utz JA, Kransdorf MJ, Jelinek JS, Moser RP Jr, Berrey BH. MR appearance of fibrous dysplasia. J Comput Assist Tomogr 1989; 13: 845-51.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Bölüm | Olgu Sunumları |
| Yazarlar | |
| Yayımlanma Tarihi | 14 Mart 2011 |
| Yayımlandığı Sayı | Yıl 2011Cilt: 33 Sayı: 1 |