Tamiyo Akaeda

Cockayne syndrome in two adult siblings

Although survival beyond the second decade is unusual in patients who have Cockayne syndrome, we describe two brothers with the syndrome who are 42 and 55 years of age. Their cultured skin fibroblasts showed extreme UV sensitivity but had almost normal UV-induced unscheduled DNA synthesis. The patients were classified as genetic complementation group B after study of the recovery of RNA synthesis after UV irradiation of fused cells. Clinical phototesting revealed a reduced threshold for UVB erythema.

A case of delayed hypersensitivity reaction following a sea urchin sting

The case of a 28-year old woman with pruritic and erythematous eruptions on the knees and ankle about 10 days after being stung by sea urchin is reported. The spines of a sea urchin were ground, extracted and patch-tested, to which the patient showed a positive delayed skin reaction. Based on the clinical course and positive patch tests, it was concluded that the patient developed a delayed hypersensitivity reaction to the sea urchins stinger.

Cockayne syndrome without typical clinical manifestations including neurologic abnormalities

Although patients with mild symptoms of atypical Cockayne syndrome (CS) have been described, there has not been a report of a patient with CS whose only clinical manifestation was cutaneous photosensitivity. Cells from patients with CS show UV sensitivity, reduced recovery of RNA synthesis, but normal UV-induced unscheduled DNA synthesis. On the other hand, the patients with UV-sensitive syndrome have only cutaneous photosensitivity and skin freckles, whereas those cells respond to UV radiation in a similar fashion to the CS cells. We describe a patient with CS who showed only photosensitivity without typical clinical manifestations of CS, but his cells showed UV sensitivity, reduced recovery of RNA synthesis, and normal unscheduled DNA synthesis after UV radiation similar to CS cells. Furthermore, the patient was assigned to complementation group B of CS on the basis of the results of complementation analysis. The present report suggests that CS has a wider spectrum than that considered previously.