Exposure to UV light

Thymine dimer

No replicating DNA
strand
 Nucleotide excision repair

Recognization

Unwinding

Cleavage

Filling

Sealing
 NUCLEOTIDE EXCISION
REPAIR

• Uvr-ABC excinuclease
• DNA Polymerase
• DNA Ligase
skin

GENE
UV The POL H gene
SKIN (encoded DNA polymerase eta
(Pol η))

Xeroderma protecting cells

pigmentosum from UV
thatinduced DNA
damage

fix DNA damage

Type A, I, XPA Type E, V, XPE

Type B, II, XPB Type F, VI, XPF

Type C, III, XPC Type G, VII, XPG

Type D, IV, XPD Type V, XPV

 Signs and
Symptoms of
Xeroderma
Pigmentosum
 Severe sunburn when exposed
to small amounts of sunlight.
These often occur during a child's
first exposure to sunlight.

Development of many freckles at an

early age

 Skin Cancer

Eyes that are painfully sensitive to the

sun and may easily become irritated
and bloodshot
Blistering on minimum sun
exposure

 Spidery blood vessels

Scaly and dry skin

Irregular dark spots on the

skin
 DIAGNOSIS
 Usually detected in early infancy 1-2 years
 Clue to diagnosis - severe sunburn after first
exposure to the sunlight
 The diagnosis of XP is made on the basis of
clinical findings and family history
 The diagnosis of XP is based on skin, eye, and
nervous system
 XP can be diagnosed by measuring the DNA
repair factor from skin or blood sample
 Tratament
Protectie
Examen ocular
impotriva
si al pielii
razelor UV

Eliminarea
Examen
prompta a
neurologic
tesutului

Psihoterapie
 Prognostic
*Mulți pacienți mor la o vârstă fragedă din
cauza cancerelor cutanate.Dar, dacă o
persoană este diagnosticată din timp, nu are
simptome neurologice severe și ia toate
măsurile de precauție pentru a evita
expunerea la lumina UV, acestea pot
supraviețui peste vârsta mijlocie.

< 40% dintre indivizii cu boala

supraviețuiesc peste vârsta de 20 de
ani. Unii cu cazuri mai puțin grave
reușesc să trăiască bine în 40 de ani