Diagnosis of RTS


Diagnosis of RTS is primarily made through evaluation of clinical features. In general, having the classic rash (poikiloderma) is the main finding for making the diagnosis of RTS. A skin biopsy may also be helpful in showing changes that are consistent with poikiloderma. Patients may have an "atypical" rash that is not quite classic for RTS, but if they have at least two other of the clinical features associated with RTS, then they are considered to have "Probable RTS." In most cases of RTS, the clinical diagnosis can be confirmed by molecular testing of the RECQL4 gene.


Mailing Address

Rothmund-Thomson Syndrome Foundation

4307 Woodward Court

Chantilly, VA 20151

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