A case of Rothmund-Thomson syndrome with reduced DNA repair capacity

Abstract

Background: Rothmund-Thomson syndrome is an autosomal recessively inherited disease with multiple skin disorders, and little has been known about the cause of the clinical features. We cultured the cells from a patient with Rothmund-Thomson syndrome and examined the ultraviolet repair characteristics.

Observations: A 5-year-old boy with Rothmund-Thomson syndrome is presented. He has had reticular pigmentation and hypopigmentation on his cheeks, upper aspect of the trunk, palms, and soles since 6 months of age. Cells originating from the patient had reduced unscheduled DNA synthesis, 37% of normal, after exposure to ultraviolet C (predominantly at 254 nm), and they were slightly more sensitive to ultraviolet C than were normal cells in cell ultraviolet survival.

Conclusion: Such repair deficiency might account for the mild sun sensitivity in early childhood. Heterogeneity in the repair mechanism as well as in clinical features in this syndrome was suggested.