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March 1993

A Case of Rothmund-Thomson Syndrome With Reduced DNA Repair Capacity

Author Affiliations

From the Department of Dermatology (Drs Shinya, Nishigori, Moriwaki, and Imamura), Department of Experimental Radiology (Dr Takebe), and Department of Pediatrics (Dr Kubota), Faculty of Medicine, Kyoto University; and Department of Dermatology, National Kyoto Hospital (Dr Ogino), Japan.

Arch Dermatol. 1993;129(3):332-336. doi:10.1001/archderm.1993.01680240072009

• 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.(Arch Dermatol. 1993;129:332-336)