<\/span><\/h2>\nBloom syndrome is a autosomal<\/span> hereditary recessive disorder, which means that two abnormal Bloom syndrome genes<\/span> they are necessary for the disease to be apparent (one from each parent). If a person has one affected gene<\/span>, he or she is called a carrier<\/span> of Bloom syndrome and does not show symptoms of the disease. If both parents are carriers<\/span>, there is a 1 in 4 chance of having an affected child with each pregnancy. Recessive diseases are usually consanguineous (eg, cousin marriages).<\/p>\nThe gene for Bloom syndrome, BLM<\/em>, is found in chromosome<\/span> 15 (the genetic locus is band 15q26.1). Mutations<\/span> in this gene cause errors in the copying process during DNA<\/span> replication and result in a greater number of breaks and chromosome rearrangements \/ sister chromatid exchanges. The result is abnormalities in the RecQL3 protein, leading to the signs and symptoms of Bloom syndrome.<\/p>\nBloom's syndrome is more common in Ashkenazi Jews from Eastern Europe. At least 1 in 100 Ashkenazi Jews is a carrier of the disease. It seems to be slightly more common in men than women.<\/p>\n
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<\/span>What are the signs and symptoms of Bloom syndrome?<\/span><\/h2>\nBloom syndrome is apparent from birth and affected newborns are unusually small. Most parents seek medical help when the baby does not grow normally. More than 50%s of children are significantly underdeveloped in physical stature up to age 8 years, and most do not reach 1.5 meters (5 feet) in adulthood.<\/p>\n
Other features of Bloom syndrome become apparent as the child grows. These include:<\/p>\n
\n- Skin characteristics\n
\n- Telangiectatic erythema - broken spider veins and reddening of the skin of the face, mainly across the bridge of the nose and the adjacent area of the upper cheek (butterfly distribution<\/span>)<\/li>\n
- \nPigmentation<\/span> of areas exposed to the sun<\/li>\n
- Cheilitis (swelling of the lips) with crust<\/span> or bleeding<\/li>\n
- Skin problems are aggravated by sun exposure in many cases (photosensitivity) and their severity ranges from mild to severely disfiguring.<\/li>\n
- There is some improvement with age.<\/li>\n<\/ul>\n<\/li>\n
- Characteristics of the skull, face and body.\n
\n- Lack of subcutaneous<\/span> fat creates a birdlike appearance, with a long narrow face and prominent nose<\/li>\n
- Relatively large protruding ears<\/li>\n
- Long limbs, particularly long arms in proportion to body length<\/li>\n
- Disproportionately large hands and feet<\/li>\n
- A high-pitched voice may be present<\/li>\n<\/ul>\n<\/li>\n
- Increased susceptibility to ear, respiratory, and gastrointestinal infections, some of which can be life-threatening.\n
\n- Bloom syndrome patients have decreased immunoglobulin<\/span> A and M.<\/li>\n<\/ul>\n<\/li>\n
- Greater susceptibility to Cancer<\/span>\n
\n- Patients with Bloom syndrome have an overall risk of 150 to 300 times the risk of developing some type of cancer compared to the general population.<\/li>\n
- At least 20% of patients with Bloom syndrome develop leukemia<\/span> or solid<\/span> organ cancer<\/li>\n
- Cancers generally arise unusually early in life, with the diagnosis made at 25 years of age.<\/li>\n
- Skin cancers are common in patients with Bloom syndrome. <\/li>\n<\/ul>\n<\/li>\n
- Sterility\n
\n- Men with Bloom syndrome are sterile.<\/li>\n
- Women have reduced fertility and shortened the reproductive period.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n
<\/span>What is the treatment for Bloom syndrome?<\/span><\/h2>\nBecause it is a genetic<\/span> disorder, there is no cure available. Genetic counseling may be appropriate for affected individuals and carriers (their parents and siblings). A genetic test to identify the mutation<\/span> It is available in some regions.<\/p>\nTreatment is primarily preventive.<\/p>\n
\n- Strict sun protection for life to reduce the risk of skin cancer later in life.<\/li>\n
- Patients with Bloom syndrome should be closely monitored for signs of precancerous<\/span> or cancerous conditions.<\/li>\n
- Treatment of short stature with growth hormone should be avoided as it is believed to increase the chance of cancer.<\/li>\n
- \nRadiotherapy<\/span> and chemotherapy<\/span> it may be inappropriate due to the risk of serious adverse effects due to the genetic defect. <\/li>\n
- \nBacterial<\/span> Infections must be treated immediately with antibiotics.<\/li>\n<\/ul>\n
<\/span>What is the result of Bloom syndrome?<\/span><\/h2>\nDeath often occurs in the second or third decade, commonly from cancer.<\/p>\n<\/section>","protected":false},"excerpt":{"rendered":"
\u00bfQu\u00e9 es la floraci\u00f3n? s\u00edndrome? El s\u00edndrome de Bloom es una afecci\u00f3n hereditaria rara caracterizada por: Telangiectasias (visible roto vasos sanguineos debajo de la piel) en la cara Fotosensibilidad Tama\u00f1o…<\/p>","protected":false},"author":8,"featured_media":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","format":"standard","meta":{"footnotes":""},"categories":[204],"tags":[],"class_list":["post-7526","wiki","type-wiki","status-publish","format-standard","category-glosario-definiciones"],"_links":{"self":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/7526","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki"}],"about":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/types\/wiki"}],"author":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/comments?post=7526"}],"version-history":[{"count":0,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/7526\/revisions"}],"wp:attachment":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/media?parent=7526"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/categories?post=7526"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/tags?post=7526"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}