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Start free with EleplanXeroderma pigmentosum
ORPHA:910Disease
What it is
Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).
Key facts
- Prevalence
- 1-9 / 1 000 000 (United States)
- Age of onset
- All ages
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
20- Abnormality of the dentition
- Arthralgia
- Cognitive impairment
- Conjunctival telangiectasia
- Cutaneous photosensitivity
- Developmental regression
- Dry skin
- EEG abnormality
- Failure to thrive
- Fatigue
- Fever
- Freckling
- Hypogonadism
- Intellectual disability, progressive
- Optic atrophy
- Poikiloderma
- Telangiectasia
- Telangiectasia of the skin
- Thickened skin
- Thin skin
Common30–79%
13Sometimes5–29%
26- Abnormality of extrapyramidal motor function
- Alopecia
- Aminoaciduria
- Ankyloblepharon
- Ataxia
- Blepharitis
- Cerebral cortical atrophy
- Craniofacial hyperostosis
and 18 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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