A case of dyskeratosis congenita with Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck.
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.
Cakmak
Seray Külcü
SK
2nd Dermatology Clinic, Ankara Numune Education and Research Hospital and Pathology Department, GATA Medical School, Ankara, Turkey.
Gönül
Müzeyyen
M
Kiliç
Arzu
A
Gül
Ulker
U
Koçak
Oğuzhan
O
Demiriz
Murat
M
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D001139:Arnold-Chiari Malformation / Q000175:diagnosis*; D002531:Cerebellum / Q000002:abnormalities*; D019871:Dyskeratosis Congenita / Q000175:diagnosis*; D004940:Esophageal Stenosis; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007971:Leukoplakia / Q000473:pathology; D008297:Male; D009333:Neck / Q000002:abnormalities*; D010859:Pigmentation Disorders / Q000473:pathology; D011859:Radiography; D014682:Vena Cava, Inferior / Q000002:abnormalities* / Q000000981:diagnostic imaging