Poikiloderma congenitale: case report and review of the literature.
Since birth an 8-year-old girl had a rash on both cheeks, consistent clinically and histologically with poikiloderma. She also had visual impairment to the extent of light perception only, due to microthalmia and dense scleralization of the corneas. These features were considered consistent with a diagnosis of Rothmund-Thomson syndrome.
Collins
P
P
City of Dublin Skin and Cancer Hospital, Ireland.
Barnes
L
L
McCabe
M
M
D002386:Cataract / Q000235:genetics; D002648:Child; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007642:Keratosis / Q000235:genetics; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D013577:Syndrome