Familial retinal vessel tortuosity in dyskeratosis congenita

A 40-year-old construction worker presented with epistaxis for 2 days. He had a history of bruising on trivial trauma since early childhood. Examination revealed pallor, conjunctival petechiae and nail dystrophy with platynychia and longitudinal striae. His palms and soles showed coarsening of skin with mottled hyperpigmentation (figure 1). White verrucous lesions were seen over the dorsum of his tongue, with leukoplakia on the buccal mucosa. Fundus examination revealed retinal vessel tortuosity (figure 2). On questioning, he had had these skin lesions since his mid-teens. Further, his father and two of his sisters had similar lesions since about the same age. His son, aged 10 years, was found to have mild skin mottling and leukoplakia. He also had retinal vessel tortuosity. Blood investigations showed pancytopenia with a haemoglobin of 10.6 g/dL, total count of 3500 cells/µL (predominantly polymorphs) and a platelet count of 45 000 per µL. Peripheral smear showed normochromic normocytic anaemia with thrombocytopenia. Discussion Dyskeratosis congenita, a bone marrow failure syndrome, is characterised by skin pigmentation, oral leukoplakia and nail changes.1 It may be inherited in an X linked recessive or autosomal-dominant manner. The diagnostic criteria for dyskeratosis congenita include: (i) all three of the diagnostic triad (nail dystrophy, abnormal skin pigmentation and leukoplakia), (ii) any one of the diagnostic triad along with bone marrow failure and two other somatic markers of the illness (eg, oesophageal strictures, short stature, hypogonadism) or (iii) aplastic anaemia with a pathogenic telomerase variant on genetic testing.3 Hoyeraal-Hreidarsson syndrome is a severe variant of dyskeratosis congenita with associated cerebellar ataxia.