Prognosis

​There is no cure for XP. Patients have a lower life expectancy (median age of death is 32 years) than the general population.[3]​ However, early diagnosis, strict and consistent ultraviolet radiation (UVR) and daylight protection, and regular cutaneous follow-up to evaluate and treat skin cancers increases life expectancy in patients without neurologic disease.​[3][12][25][26]​​​​

The leading causes of mortality are metastatic skin cancer, neurodegeneration, and internal non-cutaneous malignancies. Patients with neurodegeneration have a lower mean age of death (29 years) than patients without neurodegeneration (37 years).[7][25]​​​​​ Mortality in patients with neurodegeneration is commonly due to aspiration, infection, or trauma.[2]

Complications

In addition to cutaneous and ocular malignancies, patients are at increased risk of developing solid organ cancers including tumors of the thyroid, lung, uterus, breast, pancreas, brain, stomach, kidney, and testicles; and hematological malignancies such as leukemia.[7][14]​​[43]​​​ Patients are also at higher risk of developing smoking-induced cancers.[14]

A low threshold for investigation of these malignancies is recommended in all patients.[7][43]​​

Women with XP (mostly XPC gene mutations) often develop premature menopause (before age 40 years).[7][23]​​​​​​ Gynecologic referral is recommended for pubertal women with XP after menarche to discuss possible premature menopause and the option of preserving eggs for future pregnancies.[23]​ See Premature ovarian failure.

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