Synonyms.
Atrophoderma pigmentosum, angioma pigmentosum atrophicum, Kaposi's disease,
melanosis lenticularis progressiva.
Xeroderma pigmentosum showing lentigines, atrophy,
and scars, due to the removal of carcinomas. Tumors upon the corneas have
already destroyed the vision. Death occurred from cancer at age of 19 years.
Xeroderma
pigmentosum is a rare pigmentary and atrophic disease that begins in childhood
and progresses to the early development of senile changes in the skin, which
consist of ephelides, telangiectases, keratoses, papillomatous growths, and
carcinoma. The disease is due to a congenital altered reaction of the epidermis
to light, probably owing to some deficiency of the protective mechanism. The
occurrence of two or more cases in one family is not infrequent. The
predisposition may be due to a tissue defect caused by intermarriage. Porphyria
may be present.
The
regions most often affected are the face, neck, hands and arms, although a few
lentigines may appear on other areas. The lesions are worse upon the face, particularly about the nose and eyes. As a
rule, due to coalescence of the freckles, the entire face is dappled with
pigmented spots of various tints of brown, mingled with white atrophic patches
and telangiectases. Keratoses and vascular and epithelial neoplasms complete
the picture. Some of these tumors are usually ulcerated or crusted, or they may
be raised, discoid lesions or globular, crateriform, or even pedunculated
growths. The effects of the disease on the eyes are most distressing. Photophobia
and lacrimation are early symptoms; and keratitis with resulting opacities, and
tumors of the lids and cornea generally supervene and cause a loss of vision,
so that schooling and even simple games are interrupted and the child becomes
pitiably dependent. Death occurs early, usually between the ages of 15 and 20.
Mild forms of the disease which give no serious trouble are occasionally seen.