XERODERMA PIGMENTOSUM
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ALTERNATE NAMES
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Xeroderma Pigmentosum Variant Type; XP; XP-V
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DESCRIPTION
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Xeroderma
Pigmentosum
(XP) is a rare inherited disorder characterized by extreme skin sensitivity to all forms
of ultraviolet light, abnormal skin pigmentation, and a high frequency of skin cancer,
especially on sun-exposed skin. Other characteristics of XP are eye problems (including
photophobia, some disturbance in vision, and both malignant and non-malignant growths),
neurological problems, and mental disorders.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: XP is diagnosed by genetic lab studies documenting chromosomal breakage and abnormal
DNA repair in cells exposed to ultraviolet light.
Physical
findings: Physical findings include:
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Keratitis (inflammation of the cornea);
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Blepharitis (inflammation of the eye lids);
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Rough-surfaced growths (solar keratoses); and
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Premature aging of eyes, lips, mouth, and tongue.
ICD-9: 757.33
ICD-10: Q82.1
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PROGRESSION
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Individuals with XP usually exhibit symptoms around six months of age. These symptoms
include severe sunburn after a few minutes in the sun, redness and blistering that
can last for weeks, and freckling of the skin exposed areas, such as face, arms, and
lips. Skin cancer can occur before the age of five, with most people with XP developing
multiple skin cancers during their lifetime. XP may result in death in early adulthood
due to skin cancer.
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TREATMENT
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There is no cure for this condition. Persons with this condition require total protection
from all forms of ultraviolet light (including sunlight coming through windows and
fluorescent bulbs). The use of sunscreens with other sun-avoidance methods such as
protective clothing, hats, and eyewear can minimize UV-induced damage for individuals
with XP.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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A report from an acceptable medical source diagnosing XP with definitive genetic tests
including UV-induced chromosomal changes with abnormal DNA repair, complementation
studies, and gene sequencing; and
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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8.07 A
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Listing criterion 8.07 A is met if there are clinical and laboratory findings supporting
a diagnosis of XP (see 8.00 E 3).
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108.07 A
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Listing criterion 108.07 A is met if there are clinical and laboratory findings supporting
a diagnosis of XP (see 108.00 E 3).
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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