Berna BAYRAKÇI, Erdal ÖZEN, Ahmet SEVER, A. Ömer ÖZÜTEMİZ

Gardner sendromu: Olgu sunumu

Gardner sendromu polipozis koli, çok sayıda osteom ve cilt ve yumuşak dokuda mezenşimal tümör varlığı ile tanımlanmış otozomal dominant kalıtım gösteren bir hastalıktır ve nadir olarak görülür. Polipozis koli malign transformasyon için çok yüksek risk taşır. Bu nedenle erken tanı ve tedavisi önemlidir. Osteom kemik dokunun benign tümörüdür ve yavaş büyüme özelliğine sahiptir, üç veya daha fazla osteom saptandığında Gardner sendromu araştırılmalıdır. Cilt bulguları epidermoid kist, desmoid tümör ve diğer benign tümörleri içermektedir. Biz bu yazıda polipozis koli, osteom ve epidermoid kistleri saptanan Gardner sendromu tanılı 36 yaşındaki bir erkek olguyu sunuyoruz.

Anahtar Kelimeler:

Gardner sendromu, osteom, epidermoid kist, cerrahi tedavi

Gardner's syndrome: A case report

Gardner syndrome is a rare autosomal dominant disease characterized by the presence of colonic polyposis, osteomas and a multitude of soft tissue tumors. Colonic polyposis has a very high risk of undergoing malignant transformation; consequently, early identification and therapy of the disease are important. Osteoma is a benign neoplasm of bone tissue and it is characterized by slow continuous growth. A finding of three or more osteomas is investigated as Gardner syndrome. Cutaneous findings include epidermoid cyst, desmoid tumors, and other benign tumors. We present a case of a 36-yearold male patient with Gardner syndrome who presented with colonic polyposis, osteomas and epidermoid cysts.

Keywords:

Gardner's syndrome, osteoma, epidermoid cyst, surgical treatment,

PDF

___

Gardner EJ. A genetic and clinical study of intestinal polyposis: a predisposing factor for carsinoma of the colon and rectum. Am Hum Genet 1951; 3: 167-76.
Gardner EJ, Plenk HP. Hereditary pattern for muktiple osteomas in a family group. Am J Hum Genet 1952; 4: 31-69.
Gardner EJ, Richards RC. Multiple cutaneous and sub-cutaneous lesions occurring simultaneously with hereditary polyposis and os- teomatosis. Am J Hum Genet 1952; 5: 139-47.
Nandakumar G, Morgan JA, Silverberg D, Steinhagen RM. Famili- al polyposis coli: clinical manifestations, evaluation, management and treatment. Mt Sinai J Med 2004; 71: 384-91.
Cruz-Correa M, Giardiello FM. Diagnosis and management of he- reditary colon cancer. Gastroenterol Clin North Am 2002; 31: 537- 49.
Luk GD. Diagnosis and therapy of hereditary polyposis syndromes. Gastroenterologist 1995; 3: 153-67.
Leblanc R. Familial adenomatous polyposis and benign intracrani- al tumors; a new variant of Gardner’s syndrome. Can J Neurol Sci 2000; 27: 341-6.
Bodner L, Gatot A, Sion-Vardy N, et al. Perşpheral osteoma of the mandibular ascending ramus. J Oral Maxillofac Surg 1998; 56: 1446.
Bilkay U, Erdem O, Ozek C, et al. Benign osteoma with Gardner syndrome: Review of the literature and report of a case. The J Craniofacial Surg; 15: 506-9.
Perniciaro C. Gardner’s syndrome. Dermatol Clin 1995; 13: 51-6.
Fotiadis C, Tsekouras DK, Antonakis P, et al. Gardner’s syndrome: A case report and rewiev of the literature. World Gastroenterol 2005; 11: 5408-11.
Contessini-Avesani E, Botti F, Negri C. Familial adenomatous poly- posis. Surgical treatment: when and how. Tech Coloproctol 2004; 8: 309-14.
Vasen HF, van Duijvendijk P, Buskens E. Decision analysis in the surgical treatment of patients with familial adenomatous polyposis: a Dutch-Scandinavian collaborative study including 659 patients. Gut 2001; 49: 231-5.
Kartheuser A, Stangherlin P, Brandt D, et al. Restorative proctoco- lectomy and ileal pouch-anal anastomosis for familial adenomatous polyposis revisited. Familial Cancer 2006; 5: 241-60.
Ishikawa H. Chemoprevention of carcinogenesis in familial tumors. Int J Clin Oncol 2004; 9: 299-303.
Giardiello FM, Yang VWW, Hylind LM. Primary chemoprevention of familial adenomatous polyposis with sulindac. N Eng J Med 2002; 346: 1054-9.