Xeroderma Pigmentosum with Tumor Formation

Abstract

Xeroderma pigmentosum is a disease of infancy and childhood, terminating fatally, as a rule, before the twentieth year. It was first described by Kaposi in 1870 and since then a number of examples have been published. Macklin (1) in 1936 was able to collect 460 cases in the literature. Because of the usual prolonged course, the same case may be reported several times at intervals of years, as happened in the one here recorded.

The disease frequently starts in the second year and may be slowly progressive with remissions. It may be described as a premature aging of the skin, which shows many of the characteristics of senile skin; it also bears a resemblance to radiodermatitis and is classified among the precancerous dermatoses.

The clinical features, as the name implies, are dryness of the skin and pigmentation. This appears first on the face and hands, often after exposure to sunlight, and later may extend to the extremities and trunk. The early changes of erythema and inflammatory edema are followed by scaliness and the appearance of atrophic areas. Later keratoses develop, which may be followed by malignant growths. The nose and eye are the regions most affected. The eyelids may be involved and ulcers of the cornea develop. Photophobia is a common symptom.