Bloom’s syndrome: A case presentation
Authors
Abstract:
Bloom’s syndrome (BS) is a rare, autosomal recessive disease characterized by short stature, erythematous skin lesions with photosensitivity, hypo- and hyperpigmentation and recurrent bacterial infections due to immune deficiency. We report a 13-year old girl with erythema and telangiectasia in butterfly distribution on face, photosensitivity, multiple café au lait spots on trunk and extremities, short stature, characteristic faces consisting of a narrow prominent nose, relatively hypoplastic malar areas and receding chin with a long narrow head, and a history of recurrent otitis media. Her history and clinical features were compatible with BS.
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Journal title
volume 4 issue 3
pages 38- 43
publication date 2001-04-01
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