South Clin Ist Euras. 2012; 23(2): 95-98 | DOI: 10.5505/jkartaltr.2012.54376

Soliter pulmoner nodül ile seyreden herediter multipl ekzostoz olgusu

Coþkun Doðan, Sevda Þener Cömert, Nesrin Kýral, Serap Diktaþ, Banu Salepçi, Benan Çaðlayan
Dr. Lütfi Kýrdar Kartal Eðitim ve Araþtýrma Hastanesi, Göðüs Hastalýklarý Kliniði, Ýstanbul

Herediter multipl ekzostoz (HME), uzun kemiklerin jukstaepifizer bölgesinden köken alan ekzostozlarla karakterize, otozomal dominant geçiþli bir sendromdur. Temel defekt bozulmuþ enkondral kemik oluþumu ve enkondral kemikleþmenin olduðu jukstaepifizer bölgelerde çok sayýda benign kemik aþýrý büyümesidir (ekzostoz veya osteokondrom). Ýnsidansý 1/50.000’dir. Klinik olarak asýl yakýnma eklem yakýnýnda tek veya çok sayýda sert, aðrýsýz kitlelerin varlýðýdýr. Bu osteokondromlar büyümede geriliðe, aðrýlý lokal semptomlara, damar, tendon, sinir basýlarýna, eklem hareketlerinde kýsýtlýlýða ve nörolojik bulgulara da neden olabilir. Burada göðüs aðrýsý þikayeti ile göðüs hastalýklarý polikliniðine baþvuran ve akciðer grafisinde soliter pulmoner nodül tespit edilen HME tanýsý olan hasta, soliter pulmoner nodülün ayýrýcý tanýsýnda nadir görülen bir neden olarak sunuldu.

Anahtar Kelimeler: Herediter multipl ekzostoz, göðüs aðrýsý, soliter pulmoner nodül

---

A case of hereditary multiple exostosis presenting as solitary pulmonary nodule

Coþkun Doðan, Sevda Þener Cömert, Nesrin Kýral, Serap Diktaþ, Banu Salepçi, Benan Çaðlayan
Dr. Lütfi Kýrdar Kartal Training and Research Hospital, Department of Pulmonary Diseases, Istanbul, Turkey

Hereditary multiple exocytosis (HME) is a syndrome characterized by exocytosis bulging from the juxtaepiphyseal part of long bones and is inherited through an autosomal dominant mode. The basic defect is impaired endochondral bone growth and multiple benign bone overgrowths (exostose or osteochondroma) at the juxtaepiphyseal regions where endochondral ossification takes place. The incidence is 1/50.000. Clinically, the main complaint is the presence of single or multiple, firm, painless masses near the joints. These osteochondromas may also cause growth retardation, painful local symptoms, compression of the blood vessels, nerves and tendons, limitation of joint movements and neurological symptoms. This HME case was admitted to our clinic with the complaint of chest pain and in his chest X-ray solitary pulmonary nodule was observed. The case was presented because of its rarity in the differential diagnosis of solitary pulmonary nodule.

Keywords: Hereditary multiple exocytoses, chest pain, solitary pulmonary nodule

---

ATIF KOPYALA