A Young Diabetic Case with Bloom Syndrome a Case of Dyskeratosis
J Clin Res Pediatr Endocrinol 2015;7(Suppl 2):77-92 A Young Diabetic Case with Bloom Syndrome A Case of Dyskeratosis Congenita Associated with Hypothyroidism and Hypogonadism Nilüfer Özdemir Kutbay1, Banu Şarer Yürekli1, Mehmet Erdoğan1, Şevki Çetinkalp1, Nilüfer Özdemir Kutbay1, Zehra Erdemir2, Özgür Çoğulu2, A. Gökhan Özgen1, Banu Şarer Yürekli1, Emin Karaca3, L. Füsun Saygılı1 Mehmet Erdoğan1, Şevki Çetinkalp1, Gülşen Kandiloğlu4, A. Gökhan Özgen1, 1Ege University Faculty of Medicine, Department of Ferda Özkınay3, L. Füsun Saygılı1 Endocrinology, İzmir, Turkey 1Ege University Faculty of Medicine, Department of 2Ege University Faculty of Medicine, Department of Medical Endocrinology, İzmir, Turkey Genetics, İzmir, Turkey 2Ege University Faculty of Medicine, Department of Internal Medicine, İzmir, Turkey Bloom syndrome (BS) is a rare autosomal recessive 3Ege University Faculty of Medicine, Department of Medical disorder characterized by short stature, telangiectasias, Genetics, İzmir, Turkey and a rash on the face triggered by the sun. Other clinical 4Ege University Faculty of Medicine, Department of Pathology, features include immune deficiency and predisposition to İzmir, Turkey the development of cancer and diabetes. We present this Dyskeratosis congenital (DC) is a rare multisystemic case as the diabetic BS is rare. disease characterized by skin atrophy, pigmentation, nail Case: A 20-year-old male patient who had diabetes dystrophy, leukoplakia in mucous membrane, bone marrow for 3 years was admitted. The patient had complaints of failure, and tendency to malignancy. We present a rare case rash on sun-exposed parts of the body such as cheeks of DC associated with hypothyroidism and hypogonadism. and arms since he was 2 years old. In his medical history, Case: A 30-year-old male patient was referred to us with he was found to be followed up for growth failure.
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