Dyskeratosis Congenita: A Report of Two Cases

Oral manifestations play an important role in the diagnosis of many systemic conditions. Dyskeratosis congenita (DC) is a rare genodermatosis which exhibits oral leukoplakia, nail dystrophy, and reticular skin pigmentations as its primary features. DC has increased risk of developing constitutional anemias and malignancies and early diagnosis enables the patient to be monitored and proper interventional therapy to be instituted. Hence, dentists need to be aware of the various manifestations of this fatal syndrome. Only few cases have been reported on DC in the dental literature. Two cases of DC are reported here with a brief review of the literature. 1. Introduction Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome characterized by the triad of dystrophy of the nails (90%), reticular skin pigmentation (90%), and oral leukoplakia (80%). It is associated with a high risk of developing aplastic anemia, myelodysplastic syndrome, leukemia, and solid tumors. Atresia of the lacrimal ducts may occur causing continuous lacrimation. Patients have very short germline telomeres. Hence, many of the associated symptoms like premature graying are characteristic of geriatrics and the tissues affected are those with a high cell turnover [1]. In this paper two cases of？？DC both showing oral mucosal changes are reported. 2. Case 1 (Figure 1) Figure 1: Case 1—clinical picture showing oral leukoplakia, nail dystrophy, and hyperkeratotic pigmented patches on hands and feet. A girl aged 11 reported with symptoms of burning sensation of the tongue since one year. The patient showed pallor of the face but vital signs were within normal limits. She was not exposed to tobacco in any form. There was no family history. Her milestones were normal up to 1 year after which they slowed down. Intraorally, the tongue showed an extensive leukoplakia of size 5 × 7？cm with black pigmentation and well-defined borders (Figure 1). The pigmentation had appeared subsequent to the leukoplakia and slowly increased to the present intensity. No induration was noted. There was mild dystrophy with splitting of the fingernails since 5 years (Figure 1). Hyperkeratotic and pigmented patches were present on the back, feet, and hands (Figure 1). No soreness or watering of the eyes was noted. Blood examination showed Hb 6？gm%, prothrombin time 30？sec, and white blood cell count 6000 per cu？mm, indicating a pancytopenia. 3. Case 2 (Figure 2) Figure 2: Case 2—clinical picture showing oral leukoplakia, nail dystrophy, and reticular pigmentation on neck and palm. A female patient aged