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Rothmund-Thomson syndrome type 1

Synonym(s) Poikiloderma of Rothmund-Thomson type 1
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • Q82.8
MeSH -
MedDRA -


Disease definition

Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer.


Around 300 cases of RTS have been reported in the literature so far, with RTS1 accounting for around one-third of cases.


RTS is transmitted in an autosomal recessive manner and although mutations in the RECQL4 gene have been found in patients with the RTS2 subform (see this term), the etiology of RTS1 remains unknown.

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