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SYMTOMS.
Sunburn
when exposed to only small amounts of sunlight. Development of many freckles at an early age. Eyes that are painfully sensitive to the sun and may easily become irritated, bloodshot, and clouded. Limited growth of hair on chest and legs Scaly skin Irregular dark spots on the skin
INTRODUCTION.
First described in 1874 by Hebra and Kaposi. In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin. In affected individuals, exposure to sunlight often causes dry skin = XERODERMA changes in skin coloring =PIGMENTATION xeroderma+pegmentation =XERODERMA PGMENTOSUM
DEFINITION.
Rare disorder transmitted in an autosomal recessive manner. Autosomal recessive = inherited 2 recessive pigmentosum genes (one from each parents)
Inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. Mostly affects the eyes and areas of skin exposed to the sun.
Pp
Pp
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By having this gene, the person will experience extreme sensitivity to UV light Show a range of signs and symptoms of XP This is why a ten-year-old girl has many freckles on her face, neck, arm, and hands.
Usually XP is detected between the age of 1 and 2 years old But why this girl only get symptoms at 10-year-old? Why her parents report that she is unusually sensitive to sunlight? Maybe she does not have severe neurological symptoms at early age
Without sun protection, about half of children with this condition develop their first skin cancer by age 10. 2 basal cells carcinomas (skin cancer) are identified on her face People with xeroderma pigmentosum have a greatly increased risk of developing skin cancer.
Caus e
Normal cells are usually able to fix DNA damage before it causes problems.
DNA Damag e
Resul t
Many of the genes related to XP are part of a DNA-repair process known as nucleotide excision repair (NER). Inherited abnormalities in the NER-related genes prevent cells from carrying out one or more of these steps
When UV rays damage genes that control cell growth and division, cells can either die or grow too fast and in an uncontrolled way. Unregulated cell growth can lead to the development of cancerous tumors.
Cancerous tumors
Neurological abnormalities
Neurological abnormalities are also thought to result from an accumulation of DNA damage.
Inherited mutations in at least eight genes such as XPC, ERCC2, or POLH genes have been found to cause XP. Mutations in the other genes generally account for a smaller percentage of cases.
Gene XPA Description Xeroderma pigmentosum group A - the classical form of XP Xeroderma pigmentosum group B Xeroderma pigmentosum group C
Type B, II, XPB XPB Type C, III, XPC XPC XPD ERCC6
Type E, V, XPE DDB2 Type F, VI, XPF Type G, VII, XPG Type V, XPV ERCC4 RAD2 ERCC5 POLH