Bloom's syndrome is a clinical entity. Dr. David Bloom, a dermatologist from New York City, was the first to describe the syndrome. He identified a constellation of clinical features that characterize a person with Bloom's syndrome. These features include small body size and a distinctive rash on the face, as well as other features. Over time, more information has been collected, through following the natural history of the disorder and through laboratory tests. This information has provided a clearer picture of what is Bloom's syndrome. Although the picture is indeed clearer, many aspects of Bloom's syndrome are not well explained.
The following sections contain a summary of some of the poorly understood aspects of Bloom's syndrome and a discussion (drawing from ideas in the literature) that might help explain them. Our hope is to stimulate discussion about how research could help ameliorate some of the features and complications of Bloom's syndrome. The list herein is not meant to be comprehensive, but a starting point from which to expand.
Note: The information presented here is a work-in-progress. Periodic updates and additions are anticipated.