How is xeroderma pigmentosum caused?

summary

Pigmented dry skin disease is an autosomal recessive dermatosis with an incidence rate of about 1:25 million, which is characterized by DNA damage after UV irradiation. The patient is highly sensitive to sunlight and has photophobia. How is xeroderma pigmentosum caused? Next, I'd like to share my views with you.

How is xeroderma pigmentosum caused?

Xeroderma pigmentosum (XP) is the first human disease associated with DNA damage repair defects, which can affect all ethnic groups. The DNA damage repair function of the patient's cells after UV irradiation was defective, and the skin part of the patient lacked endonuclease,

It can't repair the DNA of the skin damaged by ultraviolet rays, so the skin is easy to be damaged by ultraviolet rays after sunlight exposure. Skin inflammation occurs first, and then skin cancer occurs. The possibility of skin cancer is almost 100%. XP is an autosomal recessive disease with genetic heterogeneity. In some families, it shows sex linked inheritance.

Studies have shown that there are 8 different types and 1 variant of this disease. Although the pathogenic genes of each type are different, the encoded proteins are involved in DNA excision and repair. The pathogenic genes of XPA, ercc3 (XPB), XPC, ERCC2 (XPD), DDB2 (XPE), ERCC4 (XPF), ercc5 (XPG), ERCC1, and POLH (xp-v) in 8 different types of XPA, XPB, XPC, XPD, XPE, XPF, XPG, xph and 1 variant of xp-v were XPA, ercc3 (XPB), XPC, ERCC2 (XPD), DDB2 (XPE), ERCC4 (XPF), ercc5 (XPG), ERCC1, and POLH (xp-v).

matters needing attention

Develop good habits, quit smoking and limit alcohol. Smoking. The World Health Organization predicts that if people stop smoking, skin cancer in the world will be reduced by 1 / 3 in five years; Second, don't drink too much. Tobacco and alcohol are extremely acidic substances. People who smoke and drink for a long time can easily lead to acidic constitution.