Bloom's syndrome in an Indian man in the UK. (5th January 2016)

• Record Type: Journal Article
• Authors: Vekaria, Rajni; Bhatt, Ree'Thee; Saravanan, Ponnusamy; de Boer, Richard C
• Is Part Of: BMJ case reports. Volume 2016
• Publication Date: 2016-01-05
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2015-212297
• Languages: English
• ISSNs: 1757-790X

Abstract

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.