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. 2015 Mar-Apr;60(2):217.
doi: 10.4103/0019-5154.152593.

Bloom syndrome with extensive pulmonary involvement in a child

Affiliations

Bloom syndrome with extensive pulmonary involvement in a child

Vineet Relhan et al. Indian J Dermatol. 2015 Mar-Apr.
No abstract available

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Figures

Figure 1
Figure 1
Child with characteristic facies with erythema, thin atrophic scarring, and numerous telangiectases over the face, especially the malar areas
Figure 2
Figure 2
(a) Chest radiograph showing left opaque hemithorax with mediastinal shift to the left suggestive of collapse of the left lung, (b) CECT (Contrast-enhanced computed tomography) of the chest showing complete volume loss of left lung with areas of bronchiectasis. The left main bronchus cannot be visualized, and, (c) High frequency of seen on chromosomal analysis of patient's blood sample

References

    1. Chabosseau P, Buhagiar-Labarchède G, Onclercq-Delic R, Lambert S, Debatisse M, Brison O, et al. Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome. Nat Commun. 2011;2:368. - PubMed
    1. Seki M, Nakagawa T, Seki T, Kato G, Tada S, Takahashi Y, et al. Bloom helicase and DNA topoisomerase III alpha are involved in the dissolution of sister chromatids. Mol Cell Biol. 2006;26:6299–307. - PMC - PubMed
    1. Nicotera TM, Notaro J, Notaro S, Schumer J, Sandberg AA. Elevated superoxide dismutase in Bloom's syndrome: A genetic condition of oxidative stress. Cancer Res. 1989;49:5239–43. - PubMed
    1. Kondo N, Motoyoshi F, Mori S, Kuwabara N, Orii T, German J. Long-term study of the immunodeficiency of Bloom's syndrome. Acta Paediatr. 1992;81:86–90. - PubMed
    1. German J. Bloom's syndrome. XX. The first 100 cancers. Cancer Genet Cytogenet. 1997;93:100–6. - PubMed