Bloom syndrome is a rare genetic disorder characterized by short stature; increased skin sensitivity to ultraviolet rays from the sun (#photosensitivity); multiple small dilated blood vessels (#telangiectasia) over the nose and cheeks resembling a butterfly in shape; mild immune deficiency with increased susceptibility to infections.
#Causes
Bloom syndrome is #inherited_as_an autosomal recessive genetic trait.
The causative gene has been mapped to chromosomal locus #15q26.1 and is responsible for encoding a protein known as #BLM. A single mutation, known as BLMAsh, is responsible for almost all cases of Bloom syndrome among Ashkenazi Jews.
#Signs_Symptoms
Infants and adults with Bloom syndrome are short and underweight and have a small head circumference, but they have normal body proportions.
Affected infants and children usually present with a distinctive,
》narrow,
》small head and face.
Sometimes, these signs are accompanied by a reddish facial rash that is due to the dilation of very small blood vessels (telangiectasia) of the face. The rash typically appears in a “#butterfly” pattern on the cheeks and across the nose. Areas of abnormal brown or gray skin coloration (cafe-au-lait spots) may occur on other parts of the body. The skin is highly sensitive to sunlight (photosensitive) and may become very red upon exposure, especially on the face.
The treatment of Bloom syndrome is symptomatic and supportive. Sunscreens may be used to decrease exposure to UV radiation, and persons with Bloom syndrome should limit contact with direct sunlight. Periodic evaluation by a dermatologist is also advised. Infections may be treated aggressively with antibiotic drugs.