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Poikiloderma Congenitale: Case Report and Review of the Literature
Author(s) -
Collins Paul,
Barnes Louise,
McCabe Mary
Publication year - 1991
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1991.tb00842.x
Subject(s) - poikiloderma , medicine , girl , dermatology , rash , surgery , developmental psychology , psychology
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 microphthalmia and dense scleralization of the corneas. These features were considered consistent with a diagnosis of Rothmund‐Thomson syndrome.