A case of Bloom syndrome with conjunctival telangiectasia.
Bloom syndrome is a rare genodermatosis characterized by photosensitivity, telangiectasias, growth retardation and malignancies. Eye findings have rarely been mentioned in case reports of this syndrome. We report a child with Bloom syndrome who had pronounced bulbar conjunctival telangiectasia originally diagnosed as episcleritis. Bulbar telangiectasia are frequently described in other genodermatoses such as ataxia telangiectasia and hereditary hemorrhagic telangiectasia, but are infrequently noted in Bloom syndrome. Previously described eye findings in Bloom syndrome are reviewed and the differential diagnosis of bulbar telangiectasia is discussed.
Sahn
E E
EE
Department of Dermatology, Medical University of South Carolina, Charleston 29425-2215, USA.
Hussey
R H
RH
Christmann
L M
LM
D001816:Bloom Syndrome / Q000175:diagnosis*; D003228:Conjunctiva; D004817:Epidermis / Q000648:ultrastructure; D004890:Erythema / Q000473:pathology; D006801:Humans; D007223:Infant; D015603:Keratinocytes / Q000648:ultrastructure; D008297:Male; D012867:Skin / Q000473:pathology