Sinan ASLAN, Savaş Şenay ERDEVE, Yıldız DALLAR

Herediter çok odaklı egzositozis

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.

Hereditary multiple exostoses

Hereditary multiple exostoses (HME) is an autosomal dominant disorder leading to polyostotic periphyseal osteochondroma formation. Osteochondromas are preferentially located in the lower extremity (hip, knee and lower leg), humerus, and forearm. These osteochondromas can cause growth disturbances, painful local symptoms, impingement of osteochondromas on vessels, nerves and tendons, restriction of joint motion, and neurologic compromise. A case with diagnosis of HME is presented and discussed with literature.

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