Xeroderma pigmentosum

What is Xeroderma pigmentosum?

Xeroderma pigmentosum is a rare disease that manifests in the homozygous state of the mutant gene. This condition is often caused by a lack of capacity to repair DNA, making cells, particularly skin cells, very sensitive to exposure to solar radiation.



Signs and symptoms

Appearing skin redness, swelling, blisters, then over time develop hypopigmentation areas, gaining a mottled skin.

Other events that can be found are:
- progressive mental deterioration,
- microcephaly,
- ataxia
- choreoathetosis,
- spasticity,
- hypogonadism,
- perception deafness,
- Peripheral neuropathy,
- convulsions.



The pathological analysis of parts of necropsy identified the loss of neurons in the pyramidal tracts, deep nuclei of cerebellum, brainstem and spinal cord, and cerebellar Purkinje cell degeneration.



Treatment target symptom care, sunscreen, prescription retinoids and remove any skin tumors surgically. However, the prognosis remains very grim condition xeroderma pigmentosum. In families affected by genetic counseling plays an important role in preventing disease transmission.