Dyskeratosis congenita: report of two cases with distinct clinical presentations

Demirguenes F. E., ELÇİN G., ŞAHİN S.

TURKISH JOURNAL OF PEDIATRICS, cilt.50, sa.6, ss.604-608, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 50 Sayı: 6
  • Basım Tarihi: 2008
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.604-608
  • Anahtar Kelimeler: dyskeratosis congenita, leukoplakia, nail disease, hyperpigmentation, CARCINOMA, TELOMERES, FEATURES
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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.