Vekaria Rajni, Bhatt Ree'Thee, Saravanan Ponnusamy, de Boer Richard C
Warwick Medical School, The University of Warwick, Coventry, UK.
University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK.
BMJ Case Rep. 2016 Jan 5;2016:bcr2015212297. doi: 10.1136/bcr-2015-212297.
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.
一名17岁的印度男子在3岁时被诊断出患有布卢姆综合征。这是英国首例关于印度人患布卢姆综合征的报告病例，也是不列颠群岛的第三例病例报告。布卢姆综合征的典型特征包括身材矮小、光敏性、毛细血管扩张性红斑、学习困难、免疫缺陷和恶性肿瘤。他出生时体重低于第0.4百分位，婴儿期体重增长缓慢。他在诊所就诊时表现为身材矮小、面部特征突出和皮肤色素沉着斑，这些都是布卢姆综合征的典型特征。其他病例报告记录了这些患者早期出现的肿瘤、光敏性和学习困难；然而，我们的患者有所不同，他目前就读于一所主流大学，在应对学业方面几乎没有困难。迄今为止，他没有出现任何恶性肿瘤或典型的蝶形皮疹。
