Xeroderma pigmentosum

Rare condition which is characterized by extreme sensitivity to ultraviolet (UV) rays from sunlight

Overview

Xeroderma pigmentosum is a rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) radiation from sunlight. Individuals with xeroderma pigmentosum have a reduced ability to repair damaged DNA, which increases their risk of developing skin cancer and other skin abnormalities.

Symptoms

The main symptom of xeroderma pigmentosum is the development of excessive freckling, dryness, and scaling of the skin exposed to sunlight. Other symptoms may include:

  • Sunburn: Severe sunburn even with minimal sun exposure.
  • Eye problems: Eye irritation, conjunctivitis, and increased sensitivity to light.
  • Neurological abnormalities: Some individuals may experience neurological abnormalities, such as developmental delays, intellectual disability, or progressive neurodegeneration.

Causes

Xeroderma pigmentosum is caused by mutations in certain genes involved in DNA repair. These mutations impair the body’s ability to repair DNA damage caused by UV radiation. The condition is usually inherited in an autosomal recessive manner, which means both parents must pass on a mutated gene for their child to develop xeroderma pigmentosum.

Treatment

There is no cure for xeroderma pigmentosum. Treatment mainly focuses on preventing sun damage and managing symptoms. Some treatment options include:

  • Sun protection: Individuals with xeroderma pigmentosum should avoid sun exposure, especially during peak hours. Protective clothing, hats, sunglasses, and sunscreen with high SPF should be used.
  • Regular skin exams: Routine skin exams are essential to detect any signs of skin cancer or other abnormalities early.
  • Surgery: If skin cancer develops, surgical removal of the affected tissue may be necessary.
  • Genetic counseling: Families affected by xeroderma pigmentosum may benefit from genetic counseling to understand the inheritance pattern and risks for future pregnancies.

Self-Care

In addition to medical management, self-care practices can help individuals with xeroderma pigmentosum protect their skin and overall health:

  • Stay indoors: Minimize exposure to sunlight by staying indoors or seeking shade.
  • Use protective measures: Wear protective clothing, including long sleeves, pants, wide-brimmed hats, and UV-blocking sunglasses.
  • Apply sunscreen: Use sunscreen with a high SPF regularly on exposed areas of the skin.
  • Regular check-ups: Regularly visit a dermatologist and other healthcare providers to monitor the skin and overall health.

To learn more and seek medical advice regarding xeroderma pigmentosum, please WhatsApp us or contact us at +9203164760604.