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CASE REPORT
Bloom's syndrome in an Indian man in the UK
  1. Rajni Vekaria1,
  2. Ree'Thee Bhatt2,
  3. Ponnusamy Saravanan1,3,
  4. Richard C de Boer4
  1. 1Warwick Medical School, The University of Warwick, Coventry, UK
  2. 2University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK
  3. 3Department of Diabetes, Endocrinology & Metabolism, George Eliot Hospital, Coventry, UK
  4. 4Neonatal Unit, University Hospitals Coventry & Warwickshire NHS Trust, Coventry, UK
  1. Correspondence to Dr Ponnusamy Saravanan, p.saravanan{at}warwick.ac.uk

Summary

A 17-year-old Indian man was diagnosed with Bloom's syndrome at the age of 3 years. This is the first reported case of Bloom's in an Indian from the UK and the third case report from the British Isles. Bloom's is typically characterised by short stature, photosensitivity, telangiectatic erythema, learning difficulties, immunodeficiency and malignancy. He was born below the 0.4th centile and failed to gain weight as an infant. He presented in clinic with short stature, prominent facial features and hyperpigmented skin patches, which are all defining characteristics of Bloom's syndrome. Other case reports have documented early neoplasms, photosensitivity and learning difficulties in these patients; however, our patient is different, and currently attends a mainstream college, demonstrating little difficulty in coping with the work. To date, he has not presented with any malignancy or characteristic malar rash.

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