XERODERMA PIGMENTOSUM

ALTERNATE NAMES

Xeroderma Pigmentosum Variant Type; XP; XP-V

DESCRIPTION

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.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

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:

• •

  Photosensitivity;

• •

  Clouding of the cornea;

• •

  Keratitis (inflammation of the cornea);

• •

  Blepharitis (inflammation of the eye lids);

• •

  Pigmentary changes;

• •

  Skin cancers;

• •

  Rough-surfaced growths (solar keratoses); and

• •

  Premature aging of eyes, lips, mouth, and tongue.

ICD-9: 757.33

PROGRESSION

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.

TREATMENT

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.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• •

  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

• •

  Skin biopsy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

8.07 A

Listing criterion 8.07 A is met if there are clinical and laboratory findings supporting a diagnosis of XP (see 8.00 E 3).

108.07 A

Listing criterion 108.07 A is met if there are clinical and laboratory findings supporting a diagnosis of XP (see 108.00 E 3).

Equals