Bloom syndrome

(redirected from Bloom's syndrome)

Bloom syn·drome

(blōm), [MIM*210900]

congenital telangiectatic erythema, primarily in butterfly distribution, of the face and occasionally of the hands and forearms, with sun sensitivity of skin lesions and dwarfism with normal body proportions except for a narrow face and dolichocephalic skull; chromosomes are excessively unstable and there is a predisposition to malignancy; autosomal recessive inheritance, caused by mutation in the Bloom syndrome gene (BLM) on chromosome 15q.

Bloom syndrome

(blo͞om) or

Bloom's syndrome

(blo͞omz)

A rare autosomal recessive condition characterized by small stature, photosensitive skin with facial telangiectasia and erythema, and a predisposition to various cancers.

Bloom syndrome

A Jewish genetic disease of early onset.

Clinical findings
Pre- and postnatal growth deficiency, photosensitivity, benign and malignant tumours in childhood, male sterility, scattered skin lesions (facial telangiectasias, abnormal pigmentation), death in early adulthood usually due to cancer.

Molecular pathology
BLM mutation results in a deficiency of Bloom helicase, leading to mitotic hyper crossover and chromosomal instability.

Bloom syn·drome

(blūm sin'drōm)

Congenital telangiectatic erythema, primarily in butterfly distribution, of the face and occasionally of the hands and forearms, with sun sensitivity of skin lesions and dwarfism with normal body proportions except for a narrow face and dolichocephalic skull; chromosomes are excessively unstable and there is a predisposition to malignancy; autosomal recessive inheritance, caused by mutation in the Bloom syndrome gene (BLM) on chromosome 15q.

Bloom,

David, U.S. dermatologist, 1892–.

Bloom syndrome - congenital telangiectatic erythema and dwarfism with normal body proportions except for a narrow face and dolichocephalic skull.

References in periodicals archive ?

According to data from the Bloom's Syndrome Registry, diabetes in these patients tends to begin early with a mean age at diagnosis of 26.6 years.

Ellis, "Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases," Ageing Research Reviews, vol.

DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation

Sandberg, "Elevated superoxide dismutase in Bloom's syndrome: a genetic condition of oxidative stress," Cancer Research, vol.

Oxidative Stress in Cancer-Prone Genetic Diseases in Pediatric Age: The Role of Mitochondrial Dysfunction

Bloom's syndrome associated with acanthosis nigricans.

Clinico pathological study of Acanthosis Nigricans and its correlation with obesity and insulin resistance

Children are increasingly recognised as having these disorders, particularly in the setting of Fanconi anaemia, ataxia telangiectasia and Bloom's syndrome. Juvenile myelomonocytic leukaemia and the monosomy-7 syndrome are relatively common; therefore the index of suspicion must be high when faced with otherwise unexplained signs and haematological abnormalities.

Myelodysplasia

Washington, Dec 25 (ANI): A new research has found a molecular link which ties two rare inherited disorders - Fanconi Anemia (FA) and Bloom's Syndrome (BS).

Molecular link bridging two inherited disorders found

[26] have studied patients with selected primary immunodeficiency disorders (Bloom's syndrome, Wiskott-Aldrich Syndrome, IgA deficiency).

Epstein-Barr virus nuclear antigen-2 detection and typing in immunocompromised children correlated with lymphoproliferative disorder biopsy findings

These include nutritional insufficiency, renal disease, or a genetic condition for which GH therapy might be hazardous, such as Bloom's syndrome.

Use of growth hormone in SGA kids adds inches: new guidelines. (Clinical Rounds)

Bloom's syndrome is characterized by severe pre- and postnatal growth deficiency, a sun-sensitive erythematous face, well-demarcated hyper- or hypopigmented skin lesions and variable immunodeficiency [21].

Similar patterns of chromosomal instability have been found in other premature ageing syndromes, such as Bloom's syndrome where chromosomal breaks are readily apparent [48].

The premature ageing syndromes: insights into the ageing process

Cancer plays an intimate role in the lives of Bloom's syndrome patients.

Gene for rare disease gives cancer clues

Two teams of scientists have independentlyfound that an enzyme deficiency may be responsible for the rare human disease called Bloom's syndrome. The disease carries an increased risk of leukemia and lymphoma, and is one of a small group of inherited diseases in which an abnormal amount of unrepaired chromosomal breakage occurs.