(Q82.1) Xeroderma pigmentosum

More details coming soon

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266 982 in individuals diagnosis xeroderma pigmentosum confirmed
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2 472 deaths with diagnosis xeroderma pigmentosum
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1% mortality rate associated with the disease xeroderma pigmentosum

Diagnosis xeroderma pigmentosum is diagnosed Women are 6.25% more likely than Men

125 148

Men receive the diagnosis xeroderma pigmentosum

1 374 (1.1 %)

Died from this diagnosis.

100
95
90
85
80
75
70
65
60
55
50
45
40
35
30
25
20
15
10
5
0
141 834

Women receive the diagnosis xeroderma pigmentosum

1 098 (0.8 %)

Died from this diagnosis.

Risk Group for the Disease xeroderma pigmentosum - Men and Women aged 0

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In Men diagnosis is most often set at age 0-89
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Less common in men the disease occurs at Age 90-95+Less common in women the disease occurs at Age 90-94
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In Women diagnosis is most often set at age 0-89, 95+

Disease Features xeroderma pigmentosum

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Non-contagious
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Moderate individual risk, low public risk
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Xeroderma pigmentosum - what does this mean

Xeroderma pigmentosum is a rare genetic disorder that affects the skin's ability to repair damage caused by ultraviolet (uv) radiation from the sun. it is caused by mutations in the genes that are responsible for repairing dna damage. people with this disorder are unable to repair uv damage to their skin, resulting in severe sunburns and an increased risk of skin cancer.

What happens during the disease - xeroderma pigmentosum

Xeroderma pigmentosum is a rare genetic disorder that is caused by a mutation in certain genes responsible for repairing damage to dna caused by ultraviolet light. this mutation leads to an inability to repair the damage, which leads to an accumulation of mutations in the skin cells, resulting in an increased risk of skin cancer and other skin problems.

Clinical Pattern

More details coming soon

How does a doctor diagnose

  • Complete physical examination
  • Family history evaluation
  • Skin biopsy
  • Urine analysis
  • Blood tests to measure the levels of enzymes
  • Genetic testing
  • UV light exposure test

Treatment and Medical Assistance

Main goal of the treatment: To reduce the risk of skin cancer and other skin problems associated with Xeroderma Pigmentosum.
  • Regularly use sunscreen with a high SPF rating.
  • Avoid direct sunlight and use protective clothing.
  • Take vitamin and mineral supplements.
  • Use topical creams to reduce skin dryness.
  • Undergo regular skin examinations.
  • Avoid ultraviolet light exposure, including tanning beds.
  • Use eye protection when outdoors.
  • Avoid contact with chemicals that can cause skin damage.
  • Take antioxidant supplements to help repair skin damage.
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8 Days of Hospitalization Required
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69 Hours Required for Outpatient Treatment

Xeroderma pigmentosum - Prevention

Xeroderma pigmentosum can be prevented by avoiding exposure to ultraviolet light, wearing protective clothing and sunscreen, and avoiding tanning beds.

Main symptoms of the disease xeroderma pigmentosum

Decreased vision

(Impaired vision, Blurred vision, Diminished vision, Reduced vision, Fuzzy vision, Clouded vision, Hazy vision, Poor vision, Weak vision, Low vision)

Decreased vision is a symptom of many underlying conditions. It can range from mild blurring of vision to complete loss of sight. It can develop gradually or suddenly, and may be accompanied by pain, headaches, or double vision. Depending on the underlying cause, it can be partial or complete, affec...

Age: any ageAccociated with 74 diseases

Tissue edema

(Fluid retention, Swelling, Puffiness, Fluid accumulation, Bloating, Hydrops, Dropsy, Congestion, Inflammation)

Tissue edema is an accumulation of fluid in the interstitial space of the body. It can occur in any part of the body, but is most commonly seen in the extremities, face, and abdomen. It is characterized by swelling, tenderness, and a feeling of tightness in the affected area. It may develop graduall...

Age: any ageAccociated with 132 diseases
Blisters on the skin

Blisters on the skin

Blisters are small pockets of fluid that form on the skin. They can range in size from tiny dots to large patches. They are often itchy and can be filled with clear fluid, pus, or blood. Blisters can be caused by friction, burns, infections, and other skin conditions. They can develop suddenly or gr...

Age: any ageAccociated with 19 diseases

Growth on the skin

(Lump, Bump, Swelling, Swollen area, Lesion, Nodule, Tumor, Papule, Elevation, Node, Tubercle, Protuberance, Excrescence, Outgrowth)

Growth on the skin is a symptom that can appear as bumps, lesions, or discolorations. It can develop slowly over time or appear suddenly. Depending on the type of growth, it may be red, brown, or flesh-colored, and may be raised or flat. It may also be itchy, painful, or without any sensation. A doc...

Age: any ageAccociated with 11 diseases

Skin redness

(Rash, Erythema, Flushing, Inflammation, Blotchiness, Itching, Burning, Irritation, Discoloration, Tenderness)

Skin redness is a common symptom of many medical conditions. It can range from a mild pink flush on the cheeks to a deep red rash across the body. It is often accompanied by itching, burning, and swelling. It can develop quickly or over time, and can be triggered by a variety of factors such as alle...

Age: 1 to 100Accociated with 64 diseases

Changes in the structure of the skin

Changes in the structure of the skin can manifest as discoloration, lesions, bumps, blisters, or other abnormalities. These changes can be caused by a variety of factors, including environmental irritants, allergies, infection, and autoimmune diseases. The changes may start as small, localized patch...

Age: 1 to 100Accociated with 32 diseases

Skin pigmentation

(Skin discoloration, Skin color change, Skin tone alteration, Uneven skin color, Skin blotchiness, Skin blemishes, Hyperpigmentation, Hypopigmentation, Melasma, Freckles, Age spots, Vitiligo)

Skin pigmentation is a condition that causes changes in the color of the skin. It can range from light patches to dark spots, and can be caused by sun exposure, hormones, or certain medical conditions. It typically develops gradually over time, and may be accompanied by other symptoms such as itchin...

Age: any ageAccociated with 9 diseases