Xeroderma Pigmentosum With Mental Deficiency

Abstract

Xeroderma pigmentosum is a comparatively rare disease which was first described by Kaposi.1 It is of unknown etiology and probably congenital in origin. Consanguinity of the parents is said to be a predisposing factor. The onset of the disease occurs characteristically during the first year of life. The skin is apparently hypersensitive to light rays of wavelengths between 280 and 310 millimicrons.2 The pathologic condition of the skin shows three stages:3 (1) erythroderma, with mottling and hyperemia, slight puffiness and roughening, (2) pigmentation, with freckle formation, scaling and the formation of transient flat warts, and (3) the appearance of nonmetastasizing epitheliomas, cutaneous atrophy and late contractures of the eyelids, nose and mouth. The course is progressive but usually shows periods of quiescence. The duration of life is, as a rule, not beyond twenty-one years. Death generally results from inanition.

Congenital Ichthyosis, Spastic Diplegia, and Mental Deficiency

“…Xeroderma pigiTientosum is distinct clinically and genetically, from ichthyosis. In addition to de Sanctis and Cacchione's cases, examples of it occurring in association with mental deficiency were reported by Silberstein (1938) and Elsasser (1950). A case is also known to one of us (B.W.R.).…”

Neurological manifestations in xeroderma pigmentosum

“…In addition to the skin lesions, de Sanctis and Caccione (1932) {GI reported on three brothers with xeroderma pigmentosum associated with mental deficiency, dwarfism, and gonadal hypoplasia. Since then, cases of xeroderma pigmentosum and primary neuronal degeneration have been reported 116, 19,22).…”