Genetically heterogenerous autosomal recessive disorder with increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group.
- Specific challenges associated with the recognition of the condition :
Diagnosis is easy in at-risk families but more difficult until specific skin features appear in families without known risk.
- Specific challenges associated with the diagnosis :
Need of molecular diagnosis.
- Specific challenges associated with the treatment :
No specific treatment except photoprotection and treatment of skin cancers.
- Specific challenges associated with care of these patients over their :
Avoidance of UV, need specific equipment during daytime, major quality of life impact, difficulties in all age groups, better overall prognosis since implementation of strict photoprotection since infancy.
Prevalence : unknown