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A case of dyskeratosis congenita with Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck
Author(s) -
Çakmak Seray Külcü,
Gönül Müzeyyen,
Kılıç Arzu,
Gül Ülker,
Koçak Oğuzhan,
Demiriz Murat
Publication year - 2008
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/j.1365-4632.2008.03525.x
Subject(s) - medicine , dyskeratosis congenita , agenesis , leukoplakia , inferior vena cava , anatomy , esophageal stricture , surgery , esophagus , cancer , dna , genetics , telomere , biology
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.