Xeroderma Pigmentosum (‘dry pigmented skin’) XP is a hereditary autosomal recessive disorder characterised by mucocutaneous and hypersensitivity to UV radiation with irreparable DNA damage and subsequent malignant changes.

1. “I WOULD LOVE TO BE
BEAUTIFUL TOO”
XERODERMA PIGMENTOSUM STOLE MY CHILDHOOD
MD
PHECHUDI

2. OBJECTIVES
 ABSTRACT
 INTRODUCTION
 TREATMENT
 DISCUSSION
 CONCLUSION
 REFERENCES

3. ABSTRACT
Xeroderma
Pigmentosum (‘dry
pigmented skin’) XP
is a hereditary
autosomal recessive
disorder characterised
by mucocutaneous
and hypersensitivity to
UV radiation with
irreparable DNA
damage and
subsequent malignant
changes.
https://www.googleschooler.co.za/search?q=
xeroderma+pigmentosum&rlz=1C1CHMO_

4. INTRODUCTION
A 6 year old girl from Chris Hani
Baragwanath Academic Hospital presented
at Charlotte Maxeke Johannesburg
Academic Hospital with progressive
swelling, impared vision, pain and bleeding
of the left eye.
no post medical history or family history
On examination : there was a typical skin
appearance of Xeroderma
Pigmentosum
Large (12 x 10 cm)
ulcerating bleeding L
fronto-orbital mass
extending into L side nose
2cm R tempero-parietal
pigmented lesion
CT H&N : L preseptal soft tissue mass
arising from sclera, no
intracranial extension or bone
erosion.

5. treatment
Exenteration was performed on the left eye with skin
grafting (which unfortunately fell off)

6.  Post-operative radiotherapy
Treatment (i.e. Orthovoltage
for the orbit).
 A clinical mark-up of the
treatment field was made
and dose was prescribed as
follows:
 2 Gy in 23 daily #s to a total
of 46 Gy was given to left of
face using 95kV prescribed at
a depth of 0.5cm. The left
orbit was boosted using
180kV and dose prescription
of 2 Gy in 2 daily #s to a
total of 4 Gy prescribed at a
depth of 2.5cm.

7. discussion:
The patient presented only had documentation on the squamous cell
carcinoma (SCC) that was growing on both orbits because she only
presented to the oncology department for the SCC.
The journal articles refer more to the treatment and management of
XP. The article had a case on a 5 year old male who was diagnosed
with XP and had a SCC lesion on the left side of his face. The
management for this patient was surgical resection ,the use of sun
block on the exposed skin. Chemotherapy was also given using 5-fu
for the management of neoplasms of the kin, tongue, eye lids,
conjunctiva and cornea. Eye drops and bland ointment were
recommended to be used at night.

8. conclusion
Xeroderma Pigmentosum is a life
threatening disorder, since it causes
malignancies at a young age. Early
diagnosis and management may be
advantageous. Genetic counselling is
recommended for populations where
marriage of close blood-relatives is
common.
The message to everyone who is
present is that we should all
appreciate the way we look
because for some people like this
young girl, the only wish is “I’d
love to be beautiful too”

9. references
References:
Bomford, CK. & Kunkler, IH. (2003) Walter and Miller’s textbook of radiotherapy. 6th ed.
London: Churchill Livingstone.
Feller, L., Wood, N.H., Motswaledi, M.H., Khammissa, R.A.G., Meyer M., Lemmer, J (2010)
Xeroderma pigmentosum: a case report and review of the literature. Journal of preventive
medicine and hygiene. vol 51: 87-91
Chaudhary, M., Jajoo, S.N., Agarwal, R., (2012) Xerodema Pigmentosum: A case report of two
siblings. Journal of Immunodeficiency & Disorders. Vol 1:1-3
Figure 1 – 4: Feller, L., Wood, N.H., Motswaledi, M.H., Khammissa, R.A.G., Meyer M., Lemmer, J
(2010) Xeroderma pigmentosum: a case report and review of the literature. Journal of
preventive medicine and hygiene. vol 51: 87-91
https://www.googleschooler.co.za/search?q=xeroderma+pigmentosum&rlz=1C1CHMO_
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