A case of dyskeratosis congenita with Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck
International Journal of Dermatology, cilt.47, sa.4, ss.377-379, 2008 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 47 Sayı: 4
- Basım Tarihi: 2008
- Doi Numarası: 10.1111/j.1365-4632.2008.03525.x
- Dergi Adı: International Journal of Dermatology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.377-379
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Dyskeratosis congenita (DC) is a rare inherited disorder that is usually seen in males, consisting of the triad of leukoplakia of the mucous membranes, nail dystrophy, and skin pigmentation. We present a case of DC associated with esophageal stricture, Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck. A 22-year-old man attended our clinic with leukoplakia of the oral mucosa and nail dystrophy. In addition to these findings, poikilodermia on his neck and upper and lower extremities, bilateral ectropion, webbed neck, and low posterior hair neck was detected on dermatologic examination. Esophagoscopy demonstrated esophageal stricture. Cranial magnetic resonance imaging showed tonsillar herniation, and thoracoabdominal computed tomography revealed absence of inferior vena cava. © 2008 The International Society of Dermatology.