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Familial retinal vessel tortuosity in dyskeratosis congenita
  1. Kiren George Koshy,
  2. Moothezhathu Kesavadas Suresh
  1. General Medicine, Trivandrum Medical College, Thiruvananthapuram, Kerala 695011, India
  1. Correspondence to Dr Kiren George Koshy, General Medicine, Trivandrum Medical College, Thiruvananthapuram, Kerala 695011, India; kirenkoshy{at}

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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 …

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  • Contributors KGK: worked up the case, took the photographs and wrote the report. He is the corresponding author and takes responsibility for the originality of the work. MKS: supervised the workup and edited the article.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; internally peer reviewed.