Table 2.
Summary table for included studies focused on clinical manifestations.
Authors (year) | Clinical manifestations |
Bouman et al (2018) [16] | BSa with a lack of sun-sensitive facial erythema |
Giordano et al (2016) [17] | BS with erythema, telangiectasia, proportionate dwarfism, and increased risk of internal cancers. Cellular or genetic defects: quadriradial chromosomes; cells sensitive to ionizing radiation and alkylating agents |
Capell et al (2009) [18] | BS with increased risk of cancer, ultraviolet hypersensitivity, hyper- and hypopigmented skin changes, decreased subcutaneous fat, immune deficiency, anemia, increased susceptibility to type II diabetes mellitus, severe growth retardation, and death by the age of 30 years usually due to cancer |
Diaz et al (2006) [19] | BS with altered carbohydrate metabolism (however, small cohort, n=11) |
Klein and Günther (2021) [20] | BS with photosensitivity and symptoms of immunodeficiency such as more frequent respiratory and gastrointestinal infections |
Maciaszek et al (2020) [21] | BS with Wilm tumor—the most common childhood kidney cancer |
Martin et al (2010) [22] | BS with growth abnormalities, hematopoietic defects, mutagen sensitivity, and cancer predisposition |
Schierbeck et al (2019) [4] | BS with severe photosensitivity, poikiloderma, and erythematous telangiectasia, skin cancer, other malignancies of the upper and lower gastrointestinal and urinary tract |
Prime et al (2001) [23] | BS with leukemia or lymphomas or solid tumors |
Prokofyeva et al (2013) [24] | BS with epithelial carcinomas like breast cancer (not just lymphomas and leukemia) |
Taylor et al (2019) [25] | BS with congenital abnormalities, pancytopenia, and cancer proneness |
aBS: Bloom syndrome.