X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene

ÖKTEM A., KUŞÇU D. D., TUNCALI T., Kahraman U., ÖZBOLAT S.

Indian Journal of Dermatology, vol.69, no.1, pp.106, 2024 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 69 Issue: 1
  • Publication Date: 2024
  • Doi Number: 10.4103/ijd.ijd_556_23
  • Journal Name: Indian Journal of Dermatology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, CINAHL, EMBASE, Veterinary Science Database, Directory of Open Access Journals
  • Page Numbers: pp.106
  • Keywords: Dyskeratosis congenita, dystrophic nails, oral leucoplakia
  • Ankara University Affiliated: Yes

Abstract

Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome and telomere biology disorder, usullay consisting of a triad of oral leucoplakia, dystrophic nails, reticular skin pigmentation. The diagnosis in the majority of cases can be made following all the clinical findings of this triad are established. Here we report 7 years-old boy who had oral leukoplakia and nail abnormality without skin involvement, associated with bone marrow failure diagnosed with X-linked DC due to dyskerin (DKC1) mutation. Our report emphasizes the fact that clinical suspicion can prevent fatal consequences since all manifestations may not always be seen collectively.