XERODERMA PIGMENTOSUM F. B. BLACKMAR, M.D.

COLUMBUS, GEORGIA

This rare disease is described and one case added to the literature. Xeroderma pigmentosum is a fatal

skin disease which begins in infancy, usually in the first year. Although it is classed as a malignant disease and re­sults in death after ten or fifteen years, it rarely metastasizes to internal or­gans.

The usual history is that sometime in the infant's first spring or summer after more exposure to sunlight than usual (but still no more than the average child could easily tolerate) he was badly sun burned. After this freckles appeared on the face, hands, and less on the legs. In other words wherever the skin was not protected by clothing. During the first or second winter the child may seem to be entirely recovered only to have a flare-up in the summer. The effect of strong light is especially painful to the eyes. As the child grows older he hides his eyes when exposed to light. Warty growths appear after a few years on some of the pigment spots and grow to large size unless curetted off deeply. Such treatment is usually successful and safe although of course scars are left at the site of the removal. Angiomata are said to develop but neither of two cases seen by me gave any evidence of these. The favorite site for these growths is at the mucocutane-ous junctures as, the lid margins, the end of the nose and the mouth. Much annoyance follows contractions of scars left by the removal of these growths. The opening of the nose may thus be­come obstructed. While the epithelio-mata are growing on the lids these are turned in against the cornea. Later the lids are partially destroyed and partial­ly dragged away from the eye ball leav­ing the cornea unprotected. Ulcerative keratitis develops and is followed by opacities of the cornea and more or less blindness. After six to ten years the ma­lignant character of the condition be­gins to manifest itself by malnutrition from the drain on the body resources and death follows.

This disease was described in 1870. In the literature to 1920 only eighty cases had been noted.

Etiology: A claim has been made that one factor is the inter-marriage of relatives. In neither of my two cases were the parents related. The belief that heredity is concerned may be strength­ened by the fact that often more than one child in the same family is af­fected. Because the lesions are limited to the areas of skin which are most ex­posed to light it is claimed that there is a congenital hypersensitivity to ultra­violet rays. In connection with this angle of the disease it was interesting to me to observe that while the patient, whose case is here reported, was being photographed under a mercury vapor arc light, which was free from any sen­sation of heat, she was entirely com­fortable. However, when an ordinary high power electric light bulb with a reflector was turned on, in trying to get more detail in the picture, it could not be tolerated at all. The feeling of heat on the patient's face from the incandes­cent bulb was quite noticeable to my hand supporting the patient's head.

Treatment: There is no curative treatment which can be relied upon al­though one case was reported cured by x-ray. In connection with this it should be borne in mind that these patients are particularly sensitive to soft rays but their tolerance to hard rays may be even greater than normal. Arsenic, mer­cury, iodides, and cod liver oil have been used without effect. As the growths appear they should be removed with a curette. The sun proofing oint­ments might prove useful when an ex­posure to the sun cannot be avoided.

Case report: F. C. a white female aged six years, was brought to me for advice in reference to an ulcerated growth on her right lower eye lid and a skin disease of her face and hands.

Family history: The patient is one of three children. An older brother is

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XERODERMA PIGMENTOSUM 885

in good health. Another brother died of pneumonia at the age of sixteen months. This brother when three weeks old scaled as though blistered, after any exposure to sun light. Freckles ap­peared on all exposed parts of the body. He passed through only one summer before contracting a fatal attack of pneumonia. The patient's paternal great grandfather died from a cancer of the eye. There was no history of malig­nancy in the mother's family. Frequent Wassermann tests have been run on the parents with negative results. Both parents are in good health and are not blood relations. Neither are either freckled now nor were they in their childhood.

Past history: The child's birth was normal at full term. She has been en­tirely healthy and has not suffered from any childhood diseases. There have been frequent colds in the past but so far she has been free from them this winter.

Present illness: In early spring at the age of six months the mother noticed that the baby appeared to be badly sun­burned on one cheek after sitting in her crib on the front porch. Large ves­icles soon formed. These spread over the baby's entire face as the summer advanced. There was some burning of her hands and a little effect on her feet. At one time the hands were more af­fected than the face. A warty growth appeared on her right cheek and two on her neck. One of the growths on her neck was two inches in diameter and one inch high. This was removed by a physician with a high frequency cur­rent but recurred after one month. The mother purchased and applied a caustic paste which finished it's destruction.

The present growth on the eye lid ap­peared three months ago. It has slowly

increased until it now occupies almost the entire lid, being elevated about half an inch. The eye ball seems as yet un­affected. Photophobia has been marked

(Blackmar). Xeroclerma pigmentosum.

all the patient's life. She cannot tolerate day light enough to join in games and on account of her appearance is shunned by other children.

Examination: The right lower lid is covered by a red ulcerated knotty ele­vated growth. The patient is a mouth breather due to adenoids. The skin on her face is tight and glistening. There are many scars on the backs of her hands, face and neck. Large freckle­like, pigmented areas are scattered over her face. The skin on her abdomen and chest is normal.

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