Skip to main content
. 2023 Oct 5;6:e48413. doi: 10.2196/48413

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.