Clinical Guidance

No genotype-phenotype correlations, besides those shown in , have been identified.

Source: GeneReviews — "Xeroderma Pigmentosum"

Diagnostic Criteria

(full text) published diagnostic criteria focused on Japanese individuals with xeroderma pigmentosum (XP).

Suggestive Findings

XP should be suspected in individuals with the following clinical findings and family history.

Clinical findings

• Skin

• Acute sun sensitivity (severe sunburn with blistering or persistent erythema on minimal sun exposure)

• Marked freckle-like pigmentation (lentigos) on the face before age two years

• Skin cancer within the first decade of life

• Eye

• Photophobia with prominent conjunctival injection

• Severe keratitis, sometimes resulting in corneal opacification and vascularization

• Increased pigmentation of the lids with loss of lashes

• Atrophy of the skin of the lids resulting in ectropion, entropion, or in severe cases complete loss of the lids

• Ocular surface neoplasms

Source: GeneReviews — "Xeroderma Pigmentosum"

Differential Diagnosis

Other nucleotide excision repair disorders associated with cutaneous photosensitivity to consider in the differential diagnosis of xeroderma pigmentosum (XP) are summarized (see also ) [, , , , , ]. Table 5. Autosomal Recessive Nucleotide Excision Repair Disorders Exhibiting Cutaneous Photosensitivity

Management Guidelines

Evaluations Following Initial Diagnosis General clinical care guidelines for individuals with xeroderma pigmentosum (XP) have been proposed by the Japanese Dermatological Association (full text). Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with XP, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 6. Recommended Evaluations Following Initial Diagnosis in Individuals with Xeroderma Pigmentosum

Source: GeneReviews — "Xeroderma Pigmentosum"

Clinical Guidance

UV exposure from sunlight and artificial sources of UV radiation should be avoided . Artificial sources of UV. Certain light sources (e.g., mercury arc, halogen, and other lamps) can be unrecognized sources of UV. Although such light sources are often shielded, in open areas such as gymnasiums they can be a source of UV if the shield has been breached. UV meters are readily available to enable monitoring of areas to identify unexpected UV sources. Cigarette smoke. Because cells from individuals with XP are also hypersensitive to environmental mutagens, such as benzo[a]pyrene found in cigarette smoke, prudence dictates that individuals with XP should be protected against these agents. One individual with XP who smoked cigarettes for more than ten years died of bronchogenic carcinoma of the lungs at age 35 years . The authors have cared for another individual with XP who smoked and developed lung cancer in the fifth decade of life.

Source: GeneReviews — "Xeroderma Pigmentosum"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Xeroderma Pigmentosum"

Surveillance Guidelines

Table 8. Recommended Surveillance for Individuals with Xeroderma Pigmentosum

Source: GeneReviews — "Xeroderma Pigmentosum"