Bloom’s syndrome is a rare autosomal recessive disease, first described by David Bloom in 1954. It is characterized by photosensitivity, growth retardation, hypogonadism, immunodeficiency and predisposition to the development of malignancies.

It is caused by a mutation in the BLM gene (15q26.1), which encodes the DNA helicase protein, which is essential for maintaining chromosomal stability. 2-4 There is an increase in breaks and rearrangements, with exchanges between sister chromatids and formation of tri- or quadri-radial figures.5 Chromosomal instability is responsible for the phenotype and for the tendency to malignancy in patients with Bloom’s syndrome.

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The diagnosis is clinical and can be confirmed by observing the increase in exchanges between sister chromatids in cells exposed to bromodeoxyuridine (more than 50 per metaphase).

The disorder was first reported and is more frequent in Jews, but it has been detected in several other ethnic groups.

Patients have a typical face (bird face), which corresponds to the findings described in the case (microcephaly, dolichocephaly, triangular face, malar hypoplasia, micrognathism and prominent nose). Dermatological lesions begin in childhood, after sun exposure. They are characterized by erythema and telangiectasia in sun-exposed areas, especially on the face. Telangiectasia tends to disappear over time and is replaced by atrophy and dyschromia. Café au lait spots are found in about half of patients, and hypochromic macules are also common, constituting the twin spots.8

Prenatal onset short stature is characteristic. Affected men are infertile due to azospermia, and women, who are rarely fertile, experience premature ovarian failure. Affected individuals may have normal intelligence or cognitive, attention and memory deficits.

Varying degrees of cellular and humoral immunodeficiency are observed, causing recurrent childhood infections (otitis media and pneumonia). In many cases, a decrease in immunoglobulins is detected.

Malignant tumors appear in almost half of patients with this syndrome, early and in different sites (acute leukemias, lymphomas and carcinomas), being the most common cause of death. Myelodysplasia, type 2 diabetes mellitus and chronic lung disease are also reported complications. Survival beyond 40 years is rare.

The main differential diagnoses include lupus erythematosus, erythropoietic protoporphyria, Rothmund-Thomson, Cockayne and Russell-Silver syndromes, ataxia-teleangectasia, and Fanconi anemia.

In the absence of specific treatment, the approach should focus on photoprotection, correction of hormonal disturbances, early detection of malignancies and genetic counseling.

More information about medical and therapy:

https://www.rchfoundation.org.au/
https://www.medpagetoday.com/
https://www.alfredhealth.org.au/
https://www.bmj.com/
http://www.spinabifidaassociation.org/
https://www.uclahealth.org/
https://www.znanylekarz.pl/
https://www.petermac.org/

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