Conflict of interest: there are no conflicts of interest.
An unusual patient with Rothmund–Thomson syndrome, porokeratosis and bilateral iris dysgenesis
Version of Record online: 14 MAR 2006
Clinical and Experimental Dermatology
Volume 31, Issue 3, pages 401–403, May 2006
How to Cite
Mak, R. K. H., Griffiths, W. A. D. and Mellerio, J. E. (2006), An unusual patient with Rothmund–Thomson syndrome, porokeratosis and bilateral iris dysgenesis. Clinical and Experimental Dermatology, 31: 401–403. doi: 10.1111/j.1365-2230.2006.02080.x
- Issue online: 14 MAR 2006
- Version of Record online: 14 MAR 2006
- Accepted for publication 25 October 2005
Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikiloderma and the variable presence of other features including skeletal and ocular abnormalities, ectodermal defects, and susceptibility to certain malignancies. We report a 40-year-old woman with known RTS who developed porokeratoses on her limbs in adulthood, an association that has not previously been reported. In addition, she had bilateral iris dysgenesis, which has only been described once before in RTS.