Approach

While there is no cure, strict and consistent ultraviolet radiation (UVR) and daylight protection and avoidance is the mainstay of treatment and can prevent many of the serious complications of the condition.[2][20][28][38]​​​​​ Early management of malignant skin and ocular lesions improves survival. Some patients may require ongoing supportive care for neurologic manifestations.[2][7]​​​​​ 

Management requires a multidisciplinary team consisting of dermatologists, ophthalmologists, pediatricians, neurologists, otolaryngologists, and rehabilitators.[2][28]

Cutaneous management

Acute sunburn reaction following minimal UVR exposure is seen in 60% of patients.[3][25]​​​​

Advise all patients to:

  • Ensure strict and consistent protection from outdoor light sources with use of:[2][20][28][38]​​​​​

    • Protective clothing (e.g., wide-brimmed hats, gloves, long-sleeved shirts, pants, UV-resistant face masks)

    • Sunglasses

    • Broad-spectrum sunscreen with a sun protection factor of at least 30, applied regularly (preferably every 2 hours)​[7]​​​

  • Avoid outdoor light exposure during daylight hours, if possible​[20][28]

  • Use UV-resistant films on windows in cars and buildings[7][38]​​

  • Measure indoor lighting UV levels with a light meter and replace or shield UV-emitting light bulbs.​​​​[7]​​[23][28]

Due to strict UVR and daylight protection and avoidance measures, patients may have vitamin D deficiency. Give supplemental vitamin D to those with low serum vitamin D concentrations.[7][28]​ Advise patients to eat foods rich in vitamin D such as eggs, fish, or fortified foods.[7]

Once detected, premalignant cutaneous lesions such as actinic keratosis can be treated with liquid nitrogen, topical fluorouracil, or topical imiquimod. Less commonly used treatments include chemical peels or dermabrasion.[23][39]​​​​ For more detailed information, see Actinic keratosis.

Malignant cutaneous neoplasms can be treated with photodynamic therapy, curettage with electrodessication, aggressive cryosurgery, surgical excision, or Mohs micrographic surgery, depending on the type of skin cancer.[7][40]​​​ Recurrent malignancies or those in locations at high risk of recurrence can be treated with Mohs surgery.[23] For more detailed information, see Squamous cell carcinoma, Basal cell carcinoma, and Melanoma.

Chemoprevention of cutaneous malignancies should be considered on a case-by-case basis. This may include the use of topical imiquimod, topical fluorouracil, and oral retinoids such as isotretinoin and acitretin.[7] However, retinoids have many side-effects including a high teratogenic risk and they are contraindicated in pregnant women.[12][23]​​​ [41]

Ophthalmologic management

Eye involvement occurs in about 40% to 90% of patients with.[12][23][27]​​​

Ocular malignancies occur in the areas most exposed to UVR, such as the eyelids, conjunctiva, or cornea.[7][27]​​ Once detected, ocular surface squamous neoplasia can be treated with intraoperative cryotherapy or surgical resection.[7]

Keratitis can be managed with methylcellulose eye drops and soft UV-protective contact lens in order to lubricate the cornea and protect from trauma.[7][23]​ For more detailed information, see Keratitis.

Neurologic management

Worldwide, about 25% of patients experience progressive and irreversible neurologic degeneration, including sensorineural hearing loss and cognitive impairment.[7][23]​​​​​​​ Adult-onset neurodegeneration has been reported in patients with mutations in the XPF (ERCC4) gene.[30]​

There is no treatment for neurodegeneration. Patients may require supportive care in the form of hearing aids, speech therapy, and physical and occupational therapy.[7]

As neurodegeneration advances, other specialties will become involved, as needed. This may include otorhinolaryngology for hearing loss and respiratory issues (e.g., choking or aspiration pneumonia) and orthopedics for joint contractures and deformities of the foot.[2]​

Regular follow-up by neurology and otorhinolaryngology is recommended in patients with neurologic disease.[2][7]​​

Genetic counseling

As XP is inherited in an autosomal recessive pattern, genetic counseling is recommended for all patients.[2][7]​​ This is especially important in a family with an affected child if parents are considering having more children. With each additional pregnancy, the risk of having another affected child, an asymptomatic heterozygous carrier, or a genetically unaffected child is 25%, 50%, and 25%, respectively.[7]

Molecular genetic testing of at-risk siblings allows early diagnosis and sun avoidance/protection from an early age.[7]

Gynecologic referral

Women with XP (mostly XPC gene mutations) often develop premature menopause (before 40 years of age).[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.

Monitoring

Follow-up for cutaneous and ocular lesions, by a dermatologist and an ophthalmologist, respectively, is recommended every 3-6 months.[2][28]

Regular follow-up by a nutritionist for dietary supplementation, specifically vitamin D, and by otorhinolaryngology for hearing loss is also recommended.[28]

For patients with neurologic disease, regular follow-up by a neurologist is recommended.[2][7]

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