Poikiloderma Congenital: An Early Case of Rothmund-Thomson Syndrome
January 1975
in “
Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)
”
Studysummary This report describes a case of Rothmund-Thomson type congenital poikiloderma, noting minor skin changes, hair loss, and slightly elevated lysine and cystine in the urine.
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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.