[Rothmund-Thomson syndrome].
One year after a normal birth a girl developed large, flat and net-like telangiectasias and erythema with hyper- and depigmentation (poikiloderma), at first in the face and later on the limbs, sparing the trunk. There was increased light sensitivity of the affected areas. At 3 years and 8 months of age her height was diminished (3rd percentile; height 104 cm, weight 15 kg) and she had a deep nasal root and bradydactylia. These cutaneous and extracutaneous abnormalities correspond to the spectrum of Rothmund-Thomson syndrome which has a wide clinical heterogeneity. The family history for this condition was negative.
Hauschild
A
A
Universitäts-Hautklinik, Kiel.
Peschau
K
K
Christophers
E
E
D002675:Child, Preschool; D019411:Clinical Laboratory Techniques; D005260:Female; D006801:Humans; D008487:Medical History Taking; D010808:Physical Examination; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis*
Rothmund-Thomson-Syndrom.