• One of the first patients studied by Cleaver on the DNA repair defect to ultraviolet light damage in xeroderma pigmentosum has been subjected to autopsy examination. This patient had the DeSanctis-Cacchione syndrome (microcephaly, dwarfism, mental deficiency, and choreoathetosis). Her autopsy findings were similar to those of the other three patients with this syndrome, emphasizing olivopontocerebellar atrophy, who underwent autopsy. The patient apparently could not tolerate psoralens because of increased incidence of carcinoma formation.
(Arch Dermatol 113:1561-1563, 1977)
Reed WB, Sugarman GI, Mathis RA. DeSanctis-Cacchione SyndromeA Case Report With Autopsy Findings. Arch Dermatol. 1977;113(11):1561-1563. doi:10.1001/archderm.1977.01640110081013