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CHILDREN OF THE
DARK
PRESENTED BY
S. Nagarajan
Ragas dental college
SYNOPSIS
 INTRODUCTION
 DNA DAMAGE AND REPAIR
 ETIOLOGY OF XERODERMA PIGMENTOSUM
 CLINICAL FEATURES
 CASE PRESENTATION
 DIAGNOSIS
 MANAGEMENT
 CONCLUSION
•Exposure to UV light
•Thymine dimer
•No replicating DNA
strand
DNA DAMAGE
NUCLEOTIDE EXCISION REPAIR (NER)
Recognition
Unwinding
Cleavage
Filling
NER
Healthy
DNA
Healthy
DNA
UV
Damaged
DNA
8 genes
IN NORMAL INDIVIDUAL
skin
NUCLEOTIDE
EXCISION REPAIR
1. XPA
2. XPB
3. XPC
4. XPD
5. XPE
6. XPF
7. XPG
8. XPV
GENE
PATHOGENESIS
NER
Healthy
DNA
UV
Damaged
DNA
Damaged
DNA
8 genes
Type A, I, XPA Type E, V, XPE
Type F, VI, XPFType B, II, XPB
Type G, VII, XPGType C, III, XPC
Dominant Type,
XPV
Type D, IV, XPD
TYPES OF XP & MUTATED GENE
CLINICAL FEATURES
Scaly skin
Blood shotsFreckles
SKIN
 Sunburn when exposed to
sunlight
 Freckles on face and
extremities
 Scaly skin
 Blisters
EYES
 Blood shots
 Corneal keratitis
 Blepharitis
 Lid tumors
CNS
 Neurological
deficit
COMPLICATIONS
MALIGNANT MELANOMA CARCINOMA OF TIP OF TONGUE
CARCINOMA OF LOWER LIP
CASE
PRESENTATION
Un married female
Aged 40
Chief complaint: growth on lower
lip for the past 8 months
HOPI:
The growth was smaller in size
initially and gradually increased to
the current size.
The patient gave a history of pain in
that ulcer for the past 2 week
PAST MEDICAL HISTORY:
Patient had multiple pigmented
lesions which was noticed right
from her birth
The patient did not suffer from any
neurodegenerative conditions
FAMILY HISTORY:
She was born with three siblings
who were all girls and were
apparently healthy.
EXTRA ORAL EXAMINATION
Palpable right and left submandibular
lymph nodes which were firm in consistency
and non tender.
Face and extremities showed freckling.
Right eye revealed corneal clouding.
EXAMINATION OF ULCER:
Inspection
Located at left side of lower lip
Dimension 3×2 cm
Was 1 cm away from midline
Palpation
Swelling was tender
Firm in consistency
And base was indurated
FINAL DIAGNOSIS:
 Xeroderma pigmentosum
 Squamous cell carcinoma of
lower lip.
INVESTIGATION
Edge wedge biopsy was taken
and presence of cancerous
epithelial cells were noticed in
microscope.
TREATMENT PLAN:
Patient was referred to
appropriate cancer center for
management of malignancies.
DIAGNOSIS
NONSPECIFIC Usually detected in early infancy
Clue to diagnosis-severe sunburn after first
exposure to sunlight
Based on clinical features
SPECIFIC
Measuring DNA repair factor from skin and blood
samples
DIAGNOSIS BEFORE CHILD BIRTH
AMNIOCENTESIS
CHORIONIC VILLOUS SAMPLING
CULTURE OF AMNIOTIC CELLS
MANAGEMENT
Protection from
UV
MANAGEMENT..CONT..
Eye and skin
examination
Neurological
examination
Psychosocial care
PROGNOSIS
Many die at an early age (within 20 yrs.) due to cancer
Some with less severe cases survive up to their 40s
If diagnosed early
Protective measures
followed
Less severe neurological
symptoms
Can survive beyond middle age
CONCLUSION
Psychological support from family and protection against
disease progression is the only way to make them live longer.
They are meant to face the unavoidable struggles in life.
REFERENCES
1. Biology of xeroderma- JAMES E. CLEAVER
2. Xeroderma a multidisciplinary approach- MIERAN
SETHI, ALAN R. LEHMAN, HIVA FASSIHI
3. Cancer in xeroderma pigmentosum and related
disorders of DNA repair- JAMES E. CLEAVER
4. Patient information publication - NATIONAL
INSTITUITE OF HEALTH
5. Xeroderma pigmentosum pathophysiology- DR. IRIS
ARONSON
6. Xeroderma pigmentosum- MIRIA STEFFANINI,
DAVID MCGIBBON
7. Xeroderma pigmentosum- WIKIPEDIA
Children of the dark- XERODERMA PIGMENTOSUM

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