xeroderma pigmentosum
Sign in to saveAlso known as Kaposi Disease, Atrophoderma Pigmentosum, Kaposi Dermatosis, Xeroderma pigmentosa, Melanosis Lenticularis Progressiva, XP, Pigmented Epitheliomatosis, Xeroderma Pigmentosum Syndrome
autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair
Key facts
- Other names
- DeSanctis-Cacchione syndrome XP1 / XP2 / XP3 / XP4 / XP5 / XP6 / XP7 Xeroderma pigmentosum I/II/III/IV/V/VI/VII Xeroderma pigmentosum complementation group A/B/C/D/E/F/G xeroderma pigmentosum group A/B/C/D/E/F/G
- Specialty
- Medical genetics
- Symptoms
- Severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin, changes in skin pigmentation
- Complications
- Skin cancer , brain cancer , cataracts
- Usual onset
- Becomes visible ~6 months of age
- Duration
- Lifelong
- Causes
- Genetic disorder ( autosomal recessive )
- Diagnostic method
- Based on symptoms and confirmed by genetic testing
- Differential diagnosis
- Trichothiodystrophy , Cockayne syndrome , cerebrooculofacioskeletal syndrome , erythropoietic protoporphyria
- Prevention
- No cure available
- Treatment
- Completely avoiding sun or UV rays, retinoid creams , vitamin D
- Prognosis
- Life expectancy is variable and depends on neurological involvement, geographical location and access to treatment. In optimal circumstances it can be normal.
- Frequency
- • 1 in 100,000 (worldwide) • 1 in 22,000 (Japan) • 1 in 250,000 (US) • 1 in 430,000 (Europe) • 1 in 1,000,000 (UK)
via Wikipedia infobox
Research
7,027 papers- Xeroderma Pigmentosum.Head and neck pathology · 2016
- Xeroderma pigmentosum.European journal of dermatology : EJD · 2003
- Xeroderma pigmentosum.International journal of dermatology · 1986
- Xeroderma pigmentosum.The British journal of dermatology · 1973
- Xeroderma pigmentosum-Cockayne syndrome complex.Orphanet journal of rare diseases · 2017
via PubMed
~15 min read
Encyclopedic overview
Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin and changes in skin pigmentation. Nervous system problems, such as hearing loss, poor coordination, loss of intellectual function and seizures, may also occur. Complications include a high risk of skin cancer, with about half having skin cancer by age 10 without preventative efforts, and cataracts. There may be a higher risk of other cancers such as brain cancers.
XP is autosomal recessive, with mutations in at least nine specific genes able to result in the condition. Normally, the damage to DNA which occurs in skin cells from exposure to UV light is repaired by nucleotide excision repair. In people with xeroderma pigmentosum, this damage is not repaired. As more abnormalities form in DNA, cells malfunction and eventually become cancerous or die. Diagnosis is typically suspected based on symptoms and confirmed by genetic testing.
Excerpted from Wikipedia’s “xeroderma pigmentosum” article, available under the CC BY-SA 4.0 licence.