Dyskeratosis congenita: A report of two cases

Abstract

Dyskeratosis congenita (DC) is the first genetic syndrome identified among telomeropathies. Its classical phenotype is characterized by mucocutaneous abnormalities, atrophy and pigmentation of the skin, oral leukoplakia, and nail dystrophy. Bone marrow failure and susceptibility to malignancy are rare, and DC is mostly an X-linked recessive, serious, multisystemic disease. This study aims to increase dentists’ awareness of this genetic disease, accompanied by oral findings. Two cases of DC are reported in this paper, along with a short review of the literature. Oral findings of the disease include dental caries, gingival recession, short roots, gingival bleeding, severe mobility of the teeth, and alveolar bone loss. DC is clinically seen mostly in males aged 5 to 12. This case report examines dermatological and oral findings consistent with the disease of two brothers diagnosed with DC who applied to the Gülhane Health Sciences University, Faculty of Dentistry, Pediatric Dentistry Department for dental caries complaints. DC is a rare disease, and dentists should pay attention to its systemic and oral symptoms during their examinations. Despite a positive prognosis of this disease, it is important to take into account any unexpected changes in hematological values and mucocutaneous malignant alterations.

How to cite this article:

Aydın Varol E, Kılıç G, Bal C, Atay İ. Dyskeratosis congenita: A report of two cases. Int Dent Res 2023;13(3):133-7. https://doi.org/10.5577/idr2023.460

Linguistic Revision: The English in this manuscript has been checked by at least two professional editors, both native speakers of English.