![]() Women have reduced fertility and shortened reproductive span.Skin cancers are common in patients with Bloom syndrome.Cancers usually arise unusually early in life, with the diagnosis made at about 25 years of age.At least 20% of patients with Bloom syndrome develop leukaemia or solid organ cancer.Patients with Bloom syndrome have an overall 150- to 300-times increased risk of developing some form of cancer compared with the general population.Patients with Bloom syndrome have decreased immunoglobulin A and M.Increased susceptibility to ear, respiratory and gastrointestinal infections, some of which can be life-threatening.Disproportionately large hands and feet. ![]() Long limbs, particularly long arms in proportion to body length.Lack of subcutaneous fat creates a birdlike appearance, with a long narrow face and prominent nose.Skin problems are aggravated by sun exposure in many cases (photosensitivity) and vary in severity from mild to severely disfiguring.Cheilitis (swelling of the lips) with crusting or bleeding.Telangiectatic erythema – broken spidery veins and redness of the skin of the face, mainly across the bridge of the nose and adjoining upper cheek area (butterfly distribution).Other features of Bloom syndrome become apparent as the child grows older. Over 50% of children are significantly underdeveloped in physical stature until age 8 years, and most fail to reach 1.5 metres (5 feet) in adulthood. Most parents seek medical help when the infant does not grow normally. What are the signs and symptoms of Bloom syndrome?īloom syndrome is apparent from birth with affected newborns being unusually small. The most prominent and only constant physical. It appears to be slightly more common in males than females. Bloom syndrome is a rare medical condition, first described in New York City in 1954 by dermatologist David Bloom. At least 1 in 100 Ashkenazi Jews is a carrier of the disease. The result is abnormalities in the protein RecQ元, which lead to the signs and symptoms of Bloom syndrome.īloom syndrome is more common in eastern European Ashkenazi Jews. Mutations in this gene cause errors in the copying process during DNA replication and result in a higher number of chromosome breakages and rearrangements/sister chromatid exchanges. The gene for Bloom syndrome, BLM, is located on chromosome 15 (gene locus is band 15q26.1). Recessive diseases are often consanguineous (eg, cousin marriages). If both parents are carriers, there is a 1 in 4 chance of having an affected child with each pregnancy. If a person has one affected gene, he or she is called a carrier of Bloom Syndrome and does not manifest symptoms of the disease. What causes Bloom syndrome and who gets it?īloom syndrome is an autosomal recessive inherited disorder, which means that two abnormal Bloom syndrome genes are needed for the disease to be apparent (one from each parent). The condition was first described by dermatologist Dr David Bloom in 1954 and is also known as congenital telangiectatic erythema. Increased susceptibility to cancers of many sites and types.Increased susceptibility to infections and respiratory illness.Telangiectases (visible broken blood vessels under the skin) on the face.Bloom syndrome is a rare inherited condition characterised by:
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