XERODERMA PIGMENTOSUM

By Gary M. White, MD


Xeroderma Pigmentosum Extensive sun damage in a young child. Courtesy James Rasmussen, MD


Xeroderma pigmentosum (XP) is an ultraviolet sensitivity syndrome characterized by skin hyperpigmentation, premature photoaging, and early onset of skin cancers.

Clinical

The small child, 1-4 years of age, develops an exaggerated sunburn after minimal sun exposure. Later, multiple dark stellate freckles develop on the face. The skin is often dry and xerotic. Malignancies such as BCCs, SCCs, and melanoma may develop and cause early death. A progressive neurologic degeneration may occur, as well as photophobia and blindness. Lesions of the tongue may occur.

Treatment

Genetic counseling is important. Determining the complementation group can be helpful with therapy and prognosis. For example, patients with XP-C predominantly develop skin damage and early malignancies usually without neurological abnormalities [BJD 2016;174;439]. In addition, for XP-C, radiotherapy should be avoided to prevent radio-induced tumors.

Aggressive protection from the sun is essential. Going outdoors only at night is typical and for the rare trips during the day, total body protection including UV-filtered glasses is essential. The house or school may be monitored for UV levels. Windows in the car and house may be equipped with UV filters. Thermoluminescent bulbs may replace fluorescent bulbs. Strict adherence to the above measures can virtually prevent skin changes. Despite rigorous sun protection, normal vitamin D levels can be maintained given sufficient vitamin D intake.

The patient must be closely monitored for cancer. Mohs surgery, which is tissue sparing, may be best for the face. The number of cancers may be staggering with one patient having over 200. Retinoids (e.g., isotretinoin or acitretin) can be used to prevent development of skin cancers. Isotretinoin shows a dose response. 0.5 mg/kg/day is effective only for a few. 2.0 mg/kg/day greatly reduces the development of new cancers in almost all patients, but the side effects can limit its use. Imiquimod has been reported anecdotally to decrease the development of facial BCCs. Patients are encouraged to apply imiquimod as often as possible which may be as often as daily or, because of facial irritation, 3/week. Dermabrasion, laser, and chemical peels have been reported to prevent the development of skin cancers.

Routine ophthalmologic care must be provided. Genetic counseling is important.

One mother was taught to provide cryotherapy weekly at home using a cryospray device [BJD 1999;140;1190].

Additional Pictures

Note the mottled pigmentation on the face of this young child. Courtesy O. Dale Collins, MD
Xeroderma Pigmentosum

References

Sun-damaged lesions and SCC of the tongue in patients with XP. Pediatr Dermatol. 2014 Mar-Apr;31(2):e38-41

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