Genetic Disorder

Xeroderma Pigmentosum

Xeroderma pigmentosum is a rare inherited disorder in which the skin has extreme sensitivity to ultraviolet (UV) light due to impaired DNA repair mechanisms.

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Symptoms

3

Causes

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Treatments

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Prevention

Condition Overview

Understand key symptoms, causes, diagnosis options, and treatment pathways for Xeroderma Pigmentosum. This overview is intended for patient awareness and should be followed by specialist consultation.

Genetic DisorderPrevalence Available

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Symptoms

  • Severe sun sensitivity from early life
  • Freckling and pigmentation changes
  • Dry skin and premature skin aging
  • High risk of skin cancers
  • Eye irritation in sunlight

Causes

  • Inherited mutations in DNA repair genes
  • Autosomal recessive inheritance pattern
  • UV-induced DNA damage accumulation

Diagnosis

  • Clinical examination and history
  • Genetic testing
  • Skin and ophthalmic evaluation
  • Biopsy if suspicious lesions are present

Treatment

  • Strict UV avoidance and photoprotection
  • Regular dermatology and eye follow-up
  • Early treatment of precancerous lesions
  • Surgical management of skin cancers when needed

Risk Factors

  • Family history of xeroderma pigmentosum
  • Consanguinity in parents
  • High UV exposure without protection

Prevention

  • Genetic counseling for at-risk families
  • Lifelong sun-protection measures
  • Routine skin surveillance and early intervention

Prevalence

Very rare genetic disorder with markedly increased UV-related skin cancer risk.

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