Poikiloderma Congenital: An Early Case of Rothmund-Thomson Syndrome

    January 1975 in “ Munich Personal RePEc Archive (Ludwig Maximilian University of Munich) ”
    Kristensen Jk
    TLDR Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
    A case of congenital poikiloderma, specifically Rothmund-Thomson's type, was presented, characterized primarily by skin changes and hair loss, with only minor additional abnormalities. The patient exhibited a slightly elevated concentration of lysine and cystine in their urine.
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