A case of dyskeratosis congenita with portal hypertension associated with jugular venous anomaly

Turkish Journal of Gastroenterology

Volumn 17, Issue 1, 2006, Pages 66-69

  Yazgan, Yusuf ^a   Demirtürk, Levent ^a   Özel, Melih ^a   Başekim, Çinar ^a  

^a GATA HAYDARPASA TRAINING HOSPITAL   (Turkey)

Author keywords

Dyskeratosis congenita; Portal hypertension; Vascular anomaly

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; BLOOD CLOTTING DISORDER; CASE REPORT; CLINICAL EXAMINATION; DISEASE ASSOCIATION; DYSKERATOSIS CONGENITA; HISTOPATHOLOGY; HUMAN; INTERNAL JUGULAR VEIN; LABORATORY TEST; MALE; PHYSICAL EXAMINATION; PORTAL HYPERTENSION; SUBCLAVIAN VEIN; SYMPTOMATOLOGY; VEIN MALFORMATION;

ADULT; BIOPSY, NEEDLE; DYSKERATOSIS CONGENITA; HUMANS; HYPERTENSION, PORTAL; JUGULAR VEINS; LIVER; MALE; SUBCLAVIAN VEIN;

EID: 34047196011     PISSN: 13004948     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Dokal I. Dyskeratosis congenita. Br J Haematol 1999; 105 (Suppl I): 11-5.
2. Sirinavin C, Trowbridge AA. Dyskeratosis congenita: clinical features and genetic aspects: a report of a family and review of the literature. J Med Genet 1975; 12: 339-54.
3. Davidson HR, Connor JM. Dyskeratosis congenita. J Med Genet 1988; 25: 843-6.
4. Drachtman RA, Alter BP. Dyskeratosis congenita. Dermatol Clin 1995; 13: 33-9.
5. Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000; 110: 768-79.
6. Dokal I. Dyskeratosis congenita: an inherited bone marrow failure syndrome. Br J Haematol 1996; 92: 775-9.
7. Knight S, Vulliamy TJ, Copplestone A, et al. Dyskeratosis congenita (DC) registry: identification of new features of DC. Br J Haematol 1998; 103: 990-6.
8. Brown KE, Kelly TE, Myers BM. Gastrointestinal involvement in a woman with dyskeratosis congenita. Dig Dis Sci 1993; 38: 181-4.
9. Kawaguchi K, Sakamaki H, Onozawa Y, Koike M. Dyskeratosis congenita (Zinsser-Cole-Engman syndrome). An autopsy case presenting with rectal carcinoma, non-cirrhotic portal hypertension, and Pneumocystis carinii pneumonia. Virchows Arch A Pathol Anat Histopathol 1990; 417(3): 247-53.
10. Fiorel LD, Brophy MT, Deykin D. Hemostasis. In: Zakim D, Boyer TD, eds. Hepatology: A Textbook of Liver Disease. Philadelphia: Saunders, 2003; 565.
11. Solder B, Weiss M, Jager A, Belohradsky BH. Dyskeratosis congenita: multisystemic disorder with special consideration of immunologic aspects: a review of the literature. Clin Pediatr 1998; 37: 521-30.
12. Chambers JK, Salinas CF. Ocular findings in dyskeratosis congenita. Birth Defects 1982; 18: 167-74.
13. Kelly TE, Stelling CB. Dyskeratosis congenita: radiological features. Ped Radiol 1982; 12: 31-6.
14. Kalb RE, Grosman ME, Hutt C. Avascular necrosis of bone in dyskeratosis congenita. Am J Med 1986; 80: 511-3.
15. Verra F, Kouzan S, Saiag P, et al. Bronchoalveolar disease in dyskeratosis congenita. Eur Respir J 1992; 5: 497-9.
16. Arca E, Tüzün A, Tastan HB, et al. Dyskeratosis congenita with esophageal and anal stricture. Int J Dermatol 2003; 42: 555-7.