Abstract
Oral leukoplakia, nail dystrophy and reticulate hyperpigmentation comprise the classical triad of dyskeratosis congenita, a clinically heterogeneous disease with progressive systemic manifestations interfering with the function of bone marrow and lungs resulting in premature aging and death. Dyskeratosis congenita is a disorder of telomere biology in which mutations in 19 genes were described in different cases. This chapter explains the clinical and genetic aspects of the disease with emphasis on the oral manifestations. Furthermore, the underlying pathophysiology of this inherited systemic syndrome with limited treatment options is detailed.
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Alsabbagh, M.M. (2021). Dyskeratosis Congenita. In: Schmidt, E. (eds) Diseases of the Oral Mucosa. Springer, Cham. https://doi.org/10.1007/978-3-030-82804-2_9
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DOI: https://doi.org/10.1007/978-3-030-82804-2_9
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