Bloom's Syndrome: A First Report From India

This document reported the first case of Bloom's syndrome in India, involving a 6-year-old boy who presented with facial redness, scarring, and ulceration exacerbated by sunlight exposure. The boy exhibited stunted growth, developmental delays, and mild mental retardation, with an IQ of 60-65. Dermatologic examination revealed erythema, atrophic scarring, telangiectasias, and hyperpigmented macules. Chromosomal analysis showed a high frequency of sister chromatid exchanges (SCEs) and other chromosomal abnormalities. Despite treatment, the facial ulceration did not heal, and the child was advised to avoid sunlight and attend regular check-ups. The case highlighted the genetic nature of Bloom's syndrome, with a similar condition reported in a paternal cousin.