![]() This DNA instability is displayed at the. One fourth of heterozygotes develop cancer at an early age. Patients with Bloom syndrome have a 1-in-8 risk of leukemia. © 2014 The International Society of Dermatology. Bloom syndrome is a rare genetic disorder in which the cells ability to maintain the integrity of DNA is impaired. Throughout the main instability syndromes, stands out the Blooms syndrome, a rare autosomal recessive chromosomal instability disorder whose main clinical. The Bloom syndrome registry maintained by German showed that 96 of the patients survived infancy and that most of the deaths (79) were from malignancy, typically in the second or third decade of life. ![]() ![]() This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. ABSTRACT Blooms syndrome (BS) is a genetic disorder characterized cellularly by increases in sister chromatid exchanges (SCEs) and numbers of micronuclei. However, the most readily recognized clinic. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Bloom syndrome (BLM) is a genetic disorder associated with predisposition to cancer and chromosome instability. ![]() BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQ元 helicase. ![]()
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