A case of dyskeratosis congenita with Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck

Abstract

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.

Dyskeratosis congenita: a literature review

“…Histopathologic examination may reveal nonspecific findings of mild hyperkeratosis, orthokeratosis, epidermal atrophy, focal basal layer degeneration and vacuolation, flattened rete ridges, telangiectasia, focal melanin incontinence and perivascular lymphohistiocytic infiltrate [9,14,16,18,32,35,46,52,60]. One report has documented epidermal atypia [16].…”

“…The remaining deaths were due to unrelated causes [41]. [6,60] -Osteoporosis (5 %) [2,17,84]: mild [22] or severe [50] -Other skeletal abnormalities [59] Cardiovascular system -Mitral valve prolapse [86] -Absence of inferior vena cava [32] -Normal blood pressure [1,9], electrocardiogram [51] • Dystrophic enamel [60] • Periodontitis secondary to abnormal epidermis and impaired host response (neutropenia) [153] • Poor dentation necessitating restorative intervention [28] • Teeth loss […”

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability

“…The most common findings in DC/TBD are nasolacrimal duct obstruction in 29% ( 164 – 166 ), retinopathy in 21%, trichiasis ( 165 , 167 ), and entropion in 7% ( 151 , 167 ). The spectrum of ocular anomalies also includes conjunctivitis ( 167 ), ectropion ( 168 ), corneal scarring ( 167 ), cataracts ( 169 , 170 ), and retinal vasculopathy ( 171 – 174 ).…”

Dyskeratosis congenita: ein Literaturüberblick

“…In der histopathologischen Untersuchung können sich folgende unspezifische Befunde zeigen: leichte Hyperkeratose, Orthokeratose, epidermale Atrophie, fokale Degeneration und Vakuolisierung der Basalschicht, abgeflachte Retezapfen, Teleangiektasien, fokale Pigmentinkontinenz und perivaskuläre lymphohistiozytäre Infiltrate [9,14,16,18,32,35,46,52,60]. In einem Bericht wurde eine epidermale Atypie dokumentiert [16].…”