title: Bloom's syndrome in an Indian man in the UK.
abstract: 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.
authors.affiliation: Warwick Medical School, The University of Warwick, Coventry, UK.
authors.forename: Rajni
authors.initials: R
authors.lastname: Vekaria
authors.affiliation: University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK.
authors.forename: Ree'Thee
authors.initials: R
authors.lastname: Bhatt
authors.affiliation: Warwick Medical School, The University of Warwick, Coventry, UK Department of Diabetes, Endocrinology & Metabolism, George Eliot Hospital, Coventry, UK.
authors.forename: Ponnusamy
authors.initials: P
authors.lastname: Saravanan
authors.affiliation: Neonatal Unit, University Hospitals Coventry & Warwickshire NHS Trust, Coventry, UK.
authors.forename: Richard C
authors.initials: RC
authors.lastname: de Boer
mesh_terms: D000293:Adolescent; D001816:Bloom Syndrome / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis; D006801:Humans; D007194:India / Q000208:ethnology; D008297:Male; D006113:United Kingdom