Xeroderma Pigmentosum

It consists of a group of hereditary, rare diseases, of genetically heterogeneous origin, and some different types are described according to the genetic mutation shown.

Most types occur through autosomal recessive inheritance and some mild forms have autosomal dominant inheritance.

It is characterized by defects in DNA repair, showing abnormal sunlight sensitivity, with the development of precancerous lesions and various types of skin cancers.

It is strongly recommended to avoid exposure to sunlight, as well as constantly using sunscreens with high protection against UVA and UVB radiation, wearing hats, long-sleeved clothing and glasses with ultraviolet light protection.

If available, the wearing of clothes made of fabrics with anti-ultraviolet protection is suggested.

Strict surveillance shall be promoted for tumors, which must be treated early through the usual therapeutic methods.

Information about Xeroderma Pigmentosum

Definition and Transmission

It is a group of rare diseases, in which there is a greater sensitivity to the sunlight, being able to lead to the appearance of spots on the skin and tumors, soon in the first years of life. They are not contagious diseases and are usually transmitted from parents to children.

Characteristics

There are several types of the disease, with the appearance of a higher or lower number of spots and tumors on the areas in which the child is more exposed to sunlight, such as face, neck, upper trunk, arms, hands, legs and feet. Children may have difficulty looking at the light and may have other eye changes.

Care and Treatment

They must be guided by physicians and specialized healthcare professionals. Exposure to sunlight and the constant use of high protection sunscreens and the wearing of hats, long-sleeved clothes and glasses with protection against ultraviolet light must be strictly avoided. If available, the wearing of clothes made of fabrics with anti-ultraviolet protection is also suggested. Constant medical follow-up must be performed to check for new lesions.

Social Life

The children must be encouraged to live with other children and adults, to attend school, and to play. Outdoor activities must be avoided during the day. As the disease is not contagious, there are no restrictions on attending public places.

The Reality of Xeroderma Pigmentosum

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