Herediter çok odaklı egzositozis Hereditary multiple exostoses

Yıl 2006, , 111 - 114, 01.03.2006

Şenay Savaş Erdeve Yıldız Dallar Sinan Aslan

https://doi.org/10.1501/Tipfak_0000000206

Öz

Anahtar Kelimeler

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Herediter çok odaklı egzositozis

Öz

Herediter çok odaklı egzositozis (HME) poliostotik perifizyal osteokondrom oluşumuna yol açan
otozomal dominant kalıtılan bir hastalıktır. Osteokondromlar öncelikli olarak alt ekstremite (kalça,
diz, bacak), humerus ve ön kolda görülür. Bu osteokondromlar büyümede geriliğe, ağrılı lokal
semptomlara, damar, tendon, sinir basılarına, eklem hareketlerinde kısıtlılığa ve nörolojik bulgulara
neden olabilir. Burada HME tanılı bir olgu sunulmuş ve literatür eşliğinde tartışılmıştır.

Anahtar Kelimeler

Herediter çok odaklı egzositoz, osteokondrom, boy kısalığı, çocuk

Kaynakça

• 1. Wuyts W, Van Hul W, De Boule K et al. Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am J Hum Genet 1998; 62:346-354.
• 2. Vanhoenacker FM, Van Hul W, Wuyts W et al. Hereditary multiple exostoses: from genetics to clinical syndrome and complications. Eur J Radiol 2001; 40:208-217.
• 3. Murphey MD, Choi JJ, Kransdorf MJ et al. Imaging of osteochondroma: variants and complications with radiologicpathologic correlation. Radiographics 2000; 20:1407-1434.
• 4. Porter DE, Emerton ME, Villanueva-Lopez F et al. Clinical and radiographic analysis of osteochondromas and growth disturbance in hereditary multiple exoxtoses. J Pediatr Orthop 2000; 20:246-250.
• 5. Carroll KL, Yandow SM, Ward K et al. Clinical correlation to genetic variations of hereditary multiple exostoses. J Pediatr Orthop 1999; 19:785-791.
• 6. Legeai-Mallet L, Margaritte-Jeannin P, Lemdani M et al. An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses. Hum Genet 1997; 99: 298-302.
• 7. Van Hul W, Wuyts W, Hendrickx J et al. Identification of the third EXT-like gene (EXTL 3) belonging to the EXT gene family. Genomics 1998; 47:230-237.
• 8. Chen WC, Chi CH, Chuang CC et al. Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses. J Formos Med Assoc 2006; 105:434-437.
• 9. Wicklund LC, Pauli RM, Johnston D et al. Natural history study of hereditary multiple exostoses. Am J Med Genet 1995; 55:43-46.
• 10. Wuyts W, Van Hul W. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum Mutat 2000; 15:220-227.
• 11. Francannet C, Cohen-Tanugi A, Le Merrer M et al. Genotypephenotype correlation in hereditary multiple exostoses. J Med Genet 2001; 38:430-434.
• 12. Schmale GA, Conrad EU 3rd, Raskind WH. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am 1994; 76: 986-992.
• 13. Greenfield GB. Hereditary multiple exostoses (diaphysael aclasis). In: Greenfield GB, editor. Radiology of bone diseases. Philadelphia: Lippincott, 1990: 672-678.
• 14. Legeai-Mallet L, Munnich A, Maroteaux P et al. Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet 1997; 52:12-16.
• 15. Shapiro F, Simon S, Glimcher MJ. Hereditary multiple exostoses. Anthropometric, roentgenographic, and clinical aspects. J Bone Jt Surg Am 1979; 61:815-824.
• 16. Mehta M, White LM, Knapp T et al. MR imaging of symptomatic osteochondroma with pathological correlation. Skeletal Radiol 1998; 27:427-433.
• 17. Karasick D, Schweitzer ME, Eschelman DJ. Symptomatic osteochondromas: imaging features. Am J Roentgenol 1997; 168:1507-1512.
• 18. Bell RS. Musculoskeletal images. Malignant transformation in familial osteochondromatosis. Can J Surg 1999; 42:8.
• 19. Hecht JT, Hogue D, Strong LC et al. Hereditary multiple exostoses and chondrosarcoma:linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8. Am J Hum Genet 1995; 56:1125-1131.
• 20. Tsuchiaya H, Moriskawa S, Tomita K. Osteosarcoma arising from a multiple cartilaginous exostoses: a case report. Jpn J Clin Oncol 1990; 20:296-298