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June 1979

De Sanctis-Cacchione Syndrome

Author Affiliations

Newcastle-upon-Tyne, England

Arch Dermatol. 1979;115(6):676. doi:10.1001/archderm.1979.04010060002006

To the Editor.—  That the development of cutaneous malignancies in xeroderma pigmentosum may reflect the rate of DNA repair is illustrated by the following report.

Report of a Case.—  A 26-year-old woman with xeroderma pigmentosum has been observed by us for ten years; she has typical cutaneous features of xeroderma pigmentosum but cutaneous malignancy has never developed. She is of small stature, microcephalic, and mentally retarded. Nerve conduction studies and electromyography showed a mixed motor and sensory neuropathy similar to that reported by Thrush et al.1 Audiological examination revealed a sensorineural deafness, without the retrocochlear degeneration described by Longridge.2 Monochromator studies showed a characteristic delayed response at 300 nm.3 DNA repair was excision defective, and cell fusion studies assigned the patient to complementation group D.

Comment.—  DNA repair is less defective in this variant than in group A,4 and this may explain why skin cancer has

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