Xeroderma pigmentosum (XP)

Xeroderma pigmentosum (XP) Treatment In South India

Xeroderma pigmentosum (XP) is a rare inherited disorder in which the body cannot repair DNA damage caused by ultraviolet (UV) light. This leads to extreme sun sensitivity, early skin aging, and a high risk of skin and eye cancers if not properly managed.

Symptoms and Causes

What are the symptoms of Xeroderma pigmentosum?

XP causes severe skin and eye reactions to sunlight, often beginning in early childhood.

Dry, thin skin (xerosis).
Freckling and pigment changes.
Eye problems.
Severe sunburns.
Spider veins.
Thinning of skin.
Corneal ulceration and keratomalacia.
Skin Cancer.
Actinic keratosis.

What causes Xeroderma pigmentosum?

XP is caused by mutations in genes responsible for repairing UV‑induced DNA damage, inherited in an autosomal recessive pattern.

DNA Repair Defects: Mutations in certain genes stop the body from fixing damage caused by UV light, making skin and eyes highly vulnerable.
Inheritance Pattern: A child develops XP only if they inherit one defective gene from each parent, since it is an autosomal recessive disorder.

Diagnosis of Xeroderma pigmentosum

Diagnosis of XP is based on clinical findings and can be confirmed through genetic testing and specialized cell studies.

Clinical Examination: Doctors carefully observe the skin and eyes for signs of sun sensitivity, unusual pigmentation, and early freckling, particularly on sun-exposed areas. These physical signs often appear in childhood and provide the first clues for diagnosis.
Genetic Testing: Blood or saliva tests are used to identify mutations in XP DNA repair genes. Confirming specific gene mutations helps determine the exact XP type, informs prognosis, and guides family counseling.
DNA Repair Tests: Specialized laboratory tests on skin cells assess the cells’ ability to repair UV-induced DNA damage. Defective repair confirms the functional problem at the cellular level and supports the diagnosis

What are the Xeroderma pigmentosum risk factors?

Risk of XP is tied to genetic inheritance and exposure to UV radiation.

Family history: Having two carrier parents significantly increases risk.
UV exposure: Even small amounts of sunlight cause damage due to DNA repair failure.
Genetic variability: Different XP gene mutations influence the severity of skin, eye, and neurological problems.

What treatment options are available for Xeroderma pigmentosum?

Although there’s no cure for XP, careful protection from UV light and regular monitoring can prevent complications like skin cancer.

Strict Sun Avoidance: Patients are advised to wear protective clothing, UV-blocking sunglasses, wide-brimmed hats, and high-SPF sunscreen at all times. Minimizing exposure to sunlight helps reduce DNA damage and slows the progression of skin and eye problems.

Regular Screenings: Frequent skin and eye examinations are essential to detect precancerous lesions or early skin cancers. Early detection allows for timely treatment and significantly lowers the risk of severe complications.

Surgical or Medical Care: When precancerous or cancerous lesions develop, treatments may include surgical removal, laser therapy, or topical medications. Managing these lesions promptly prevents further progression and protects both skin and eye health.