Dyskeratosis congenita: report of two cases with distinct clinical presentations

Demirguenes F. E., ELÇİN G., ŞAHİN S.

TURKISH JOURNAL OF PEDIATRICS, vol.50, no.6, pp.604-608, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 6
  • Publication Date: 2008
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.604-608
  • Keywords: dyskeratosis congenita, leukoplakia, nail disease, hyperpigmentation, CARCINOMA, TELOMERES, FEATURES
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No

Abstract

Dyskeratosis congenita (DC) is a rare, inheritable disorder characterized by a triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Inheritance is mainly X-linked recessive; however, autosomal dominant and recessive forms have also been reported. Here, we report two cases of DC with distinct clinical presentations together with different genetic screening results, which emphasize the quite heterogeneous clinical as well as genetic nature of DC.