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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 6
  • Publication Date: 2008
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.604-608

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.