Dyskeratosis congenita (DC) is a rare disease of abnormal telomere biology, leading to haematopoetic failure among other heterogeneous multisystem manifestations.
There are multiple forms of the condition with varying patterns of inheritance. There is a 3:1 male:female predilection and an incidence of approximately 1:1,000,000. The most common gene mutation (DKC1) in the X-linked form of DC results in impaired telomere maintenance. Other disease genes have been implicated with both autosomal dominant and recessive inheritance, including: TERC, TINF2, ACD, RTEL1, TERT, CTC1, NHP2, NOP10, PARN, WRAP53, NAF1, SNT1, POT1 and ZCCHC8 [1–5]. As all of these genes are important in telomere maintenance, DC is now regarded as principally a disorder of defective telomere maintenance. DC classically presents with the clinical triad of dysplastic nails, lacy reticular pigmentation of the upper chest/neck and oral leukoplakia (white plaques) . Bone marrow failure is common (80 %). DC is also associated with pulmonary fibrosis, pulmonary arteriovenous malformations, poor dentition, oesophageal stenosis, cirrhosis, hepatopulmonary syndrome, vascular ectasias, urethral stenosis, peripheral neuropathy, immunodeficiency and accelerated aging. Patients with DC have an elevated risk for leukemia as well as squamous cell cancers of the head and neck, skin or anogenital regions . The treatment for DC is individualised according to symptoms. Haematopoietic stem cell transplantion (HSCT) is considered in cases of bone marrow failure or leukemia .