Poikiloderma Congenital: An Early Case of Rothmund-Thomson Syndrome
July 1975
in “
Acta dermato-venereologica
”
Studysummary This case study reports a patient with Rothmund-Thomson type congenital poikiloderma, showing primarily skin changes and hair loss, along with slightly elevated lysine and cystine levels in urine.
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The document described a case of Rothmund-Thomson syndrome, a type of congenital poikiloderma, in a patient who developed skin changes at 3 months old. The patient exhibited skin lesions, hair loss, and dental defects, but no cataracts or skeletal abnormalities. Laboratory tests showed normal chromosomal analysis and slightly elevated levels of lysine and cystine in the urine. The skin biopsy revealed atrophy and sclerotic changes without hyperkeratosis. The case highlighted the characteristic skin changes and minor abnormalities associated with Rothmund-Thomson syndrome, differentiating it from other types of congenital poikiloderma.
