CASE STUDY 1 XERODERMA PIGMENTOSUM

GROUP MEMBERS:FATIN NAJWA BT ABD RAHMAN

NOOR IZZATIE BT AMIR

SYAZWANI BT KARIM NGANG HUEY CHI YEE HON KIT

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.

Actually, she suffers from Xeroderma Pigmentosum..

XP is an autosomally recessive inherited disease

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.

2 basal cells (carcinomas skin cancer) are identified on her face

XP is caused by mutations in genes that are involved in repairing damaged DNA.

Caus e

Normal cells are usually able to fix DNA damage before it causes problems.

However In people with XP, DNA damage is not repaired normally.

As more abnormalities form in DNA, cells malfunction and eventually become cancerous or die.

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

Recognize DNA damage

Unwind damaged regions of DNA

Snip out (excise) abnormal sections

Replace damaged areas with the correct DNA.

The major features of XP result from a buildup of unrepaired DNA damage.

UV rays damage genes

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 Type A, I, XPA

Type B, II, XPB XPB Type C, III, XPC XPC XPD ERCC6

Type D, IV, XPD

Xeroderma pigmentosum group D or De SanctisCacchione syndrome

Xeroderma pigmentosum group E Xeroderma pigmentosum group F Xeroderma pigmentosum group G Xeroderma pigmentosum variant

Type E, V, XPE DDB2 Type F, VI, XPF Type G, VII, XPG Type V, XPV ERCC4 RAD2 ERCC5 POLH