KBB-Forum 2013 , Cilt 12, Sayı 3

OCHRONOSİS: A RARE CAUSE OF DYSPNEA

Dr. Yusuf DÜNDAR1, Dr. Güleser KILIÇ SALYAM2, Dr. Ünsal HAN3, Dr. Emel ÇADALLI TATAR2, Dr. Ali ÖZDEK4, Dr. Hakan KORKMAZ5
1Şırnak İdil Devlet Hastanesi, KBB Kliniği, Şırnak, Türkiye
2Dışkapı Yıldırım Beyazıt Eğitim ve Araştırma Hastanesi, KBB-BBC Kliniği, Ankara, Türkiye
3Dışkapı Yıldırım Beyazıt Eğitim ve Araştırma Hastanesi, Patoloji Kliniği, Ankara, Türkiye
4Karabük Üniverstesi, KBB-BBC Kliniği, Karabük, Türkiye
5Yıldırım Beyazıt Üniverstesi, KBB-BBC Kliniği, Ankara, Türkiye
Alcoptauria is a rare metabolic disease with hemogentisic acid oxidase deficiency. Homogentisic acid metabolites accumulate on muscle tendons, cartilages and other soft tissues, this situation called with ochronosis. Cartilage destruction may be observed on histopathologic examination. Additionally, dark urine color, scleral pigmentation, cardiovascular and respiratory symptoms can be detected. We are presenting a 69 years old male patient, who underwent emergency tracheotomy operation due to respiratory difficulty. During the operation histopathologic specimen was excised because of the black tracheal cartilage color, and ochronosis was detected. The case was discussed with the histopathologic findings and literature. Keywords : Ochronozis, dyspnea, tracheotomy, cartilage pigmentation