Öz
Osler-Weber-Rendu (Hereditary Hemorrhagic Telangiectasia) is an autosomal dominant disease characterized by telangiectasia on mucosa and skin and arteriovenous malformations in visceral organs. Telangiectasia on lips, tongue, ear, nasal mucosa, palmoplantar region and nail beds are typical findings in the disease. Visceral arteriovenous malformations are common in patients who have visceral involvements. Our case was 34 years old woman presented with hemangioma on her right side of face and lips, telangiectasia on oral mucosa and arteriovenous malformation in her lower lobe of left lung. Diagnosis was Osler-Weber-Rendu disease. We decided to report this case because it is rarely seen and arteriovenous malformation was present in the lung of the patient.
Anahtar Kelimeler
Osler-Weber-Rendu syndrome hereditary hemorrhagic Telangiectasia pulmonary arteriovenous malformation
Kaynakça
- Plauchu H, de Chadarévian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989; 32: 291-7.
- Sharathkumar AA1, Shapiro A. Hereditary haemorrhagic telangiectasia. Haemophilia 2008; 14: 1269-80.
- Ergül Y, Nişli K, Dindar A. Osler-Weber-Rendu sendromu ile ilişkili pulmoner arteriyovenöz malformasyon. Türk Ped Arş 2011; 46: 264-6.
- Grand'Maison A. Hereditary hemorrhagic telangiectasia. CMAJ 2009; 180: 833
- Braverman IM, Keh A, Jacobson BS. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol 1990; 95: 422-7.
- Nanda S, Bhatt SP. Hereditary hemorrhagic telangiectasia: epistaxis and hemoptysis. CMAJ 2009; 180: 838.
- Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000; 91: 66-7.
- Kamiński B, Błochowiak K, Olek-Hrab K, Sokalski J, Witmanowski H. Hereditary haemorrhagic telangiectasia in a patient taking anticoagulant drugs who has sustained facial trauma. Postepy Dermatol Alergol 2013; 30: 199-202. Irani F, Kasmani R. Hereditary hemorrhagic telangiectasia: fatigue and dyspnea. CMAJ 2009; 180: 839.
- Manawadu D, Vethanayagam D, Ahmed SN. Hereditary hemorrhagic telangiectasia: transient ischemic attacks. CMAJ 2009; 180: 836-7.
- Cottin V, Plauchu H, Bayle JY, Barthelet M, Revel D, Cordier JF. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 2004; 169: 994-1000.
- Memeo M, Stabile Ianora AA, Scardapane A, Buonamico P, Sabbà C, Angelelli G. Hepatic involvement in hereditary hemorrhagic telangiectasia: CT findings. Abdom Imaging 2004; 29: 211-20.
- Seethala S, Shah H, Knollmann F, Ramani R, Němec J. Radiofrequency ablation of post-incisional atrial flutter and high-output heart failure in a patient with interrupted inferior vena cava and hereditary hemorrhagic telangiectasia. Hellenic J Cardiol 2013; 54: 474-9.
Öz
Özet
Osler-Weber-Rendu sendromu [Herediter Hemorajik Telenjiektazi] deri ve mukozalarda telenjiektaziler ve iç organlarda arteriyovenöz malformasyonlar ile karakterize otozomal dominant geçiş gösteren bir hastalıktır. Dudak, dil, damak, kulak, nazal mukoza, palmoplantar bölge ve tırnak yataklarında yerleşim gösterebilen telenjiektaziler hastalığın tipik bulgusudur. İç organ tutulumu olan hastalıkta pulmoner arteriovenöz malformasyon sıktır. Olgumuz dudağında ve yüzün sağ yarısında hemanjiom, oral mukozada telenjiektaziler ve sol akciğer alt lobunda arteriyovenöz malformasyonu olan 34 yaşında kadın hastaydı. Osler-Weber-Rendu sendromu tanısı konuldu. Hastalığının nadir görülmesi ve akciğerinde eşlik eden arteriyovenöz malformasyonu bulunması nedeniyle olgumuzu sunmayı uygun gördük.
Anahtar sözcükler: Herediter hemorajik telenjiektazi, Osler-Weber-Rendu sendromu, pulmoner arteriyovenöz malformasyon
Abstract
Osler-Weber-Rendu (Hereditary Hemorrhagic Telangiectasia) is an autosomal dominant disease characterized by telangiectasia on mucosa and skin and arteriovenous malformations in visceral organs. Telangiectasia on lips, tongue, ear, nasal mucosa, palmoplantar region and nail beds are typical findings in the disease. Visceral arteriovenous malformations are common in patients who have visceral involvements. Our case was 34 years old woman presented with hemangioma on her right side of face and lips, telangiectasia on oral mucosa and arteriovenous malformation in her lower lobe of left lung. Diagnosis was Osler-Weber-Rendu disease. We decided to report this case because it is rarely seen and arteriovenous malformation was present in the lung of the patient.
Keywords: Osler-Weber-Rendu syndrome, hereditary hemorrhagic Telangiectasia, pulmonary arteriovenous malformationAnahtar Kelimeler
Herediter hemorajik telenjiektazi Osler-Weber-Rendu sendromu pulmoner arteriyovenöz malformasyon
Kaynakça
- Plauchu H, de Chadarévian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989; 32: 291-7.
- Sharathkumar AA1, Shapiro A. Hereditary haemorrhagic telangiectasia. Haemophilia 2008; 14: 1269-80.
- Ergül Y, Nişli K, Dindar A. Osler-Weber-Rendu sendromu ile ilişkili pulmoner arteriyovenöz malformasyon. Türk Ped Arş 2011; 46: 264-6.
- Grand'Maison A. Hereditary hemorrhagic telangiectasia. CMAJ 2009; 180: 833
- Braverman IM, Keh A, Jacobson BS. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol 1990; 95: 422-7.
- Nanda S, Bhatt SP. Hereditary hemorrhagic telangiectasia: epistaxis and hemoptysis. CMAJ 2009; 180: 838.
- Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000; 91: 66-7.
- Kamiński B, Błochowiak K, Olek-Hrab K, Sokalski J, Witmanowski H. Hereditary haemorrhagic telangiectasia in a patient taking anticoagulant drugs who has sustained facial trauma. Postepy Dermatol Alergol 2013; 30: 199-202. Irani F, Kasmani R. Hereditary hemorrhagic telangiectasia: fatigue and dyspnea. CMAJ 2009; 180: 839.
- Manawadu D, Vethanayagam D, Ahmed SN. Hereditary hemorrhagic telangiectasia: transient ischemic attacks. CMAJ 2009; 180: 836-7.
- Cottin V, Plauchu H, Bayle JY, Barthelet M, Revel D, Cordier JF. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 2004; 169: 994-1000.
- Memeo M, Stabile Ianora AA, Scardapane A, Buonamico P, Sabbà C, Angelelli G. Hepatic involvement in hereditary hemorrhagic telangiectasia: CT findings. Abdom Imaging 2004; 29: 211-20.
- Seethala S, Shah H, Knollmann F, Ramani R, Němec J. Radiofrequency ablation of post-incisional atrial flutter and high-output heart failure in a patient with interrupted inferior vena cava and hereditary hemorrhagic telangiectasia. Hellenic J Cardiol 2013; 54: 474-9.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Olgu Sunumları |
| Yazarlar | |
| Yayımlanma Tarihi | 28 Mart 2014 |
| Yayımlandığı Sayı | Yıl 2014 |