Abstract: Xeroderma pigmentosum with squamous cell carcinoma of skin has been infreqently reported .Is a rare autosomal recessive disease characterized by defective DNA repair. . A seven year old boy having xeroderma pigmentosa presented with extensive ulceration of the face . On investigation, the ulceration was found to be squamous cell carcinoma. The details of the case are presented and its pathological findings are discussed

1. Reviews Of Progress
KEYWORDS:
xerodermapigmentosa(XP),squamous cellcarcinoma(SCC),malignanttumor.
INTRODUCTION
Xeroderma pigmentosa (XP) is hetrogenous group of genetic disease, result from faulty DNA
mechanism. It is a rare autosomal recessive disease characterized by photosensitivity, pigmentary changes,
premature skin aging, neoplasia and abnormal DNArepair. Xeroderma pigmentosa was recognized in late
1800 by Maritz Kaposi1 . Xeroderma pigmentosa has been reported worldwide in all races with an overall
prevalence of 1-4 per million populations. Basal cell carcinoma is found associated with XP in majority of
2- 3
the reported Cases in Indian literature. Here we report a case of squamous cell carcinoma of face in a
young boy coexistingwithxerodermapigmentosa.
CASE REPORT
Aseven year old male child was brought by his father to our hospital with history of swelling and
skin pigmentation over face, scalp, neck and trunk and photophobia since 8 months of age. Ulceration on
the left side of face was present for 10 months. The pigmentation was progressive and more so after
exposure to sunlight and over exposed areas. There was no history of seizures or difficulty in hearing. He
had a good appetite with normal bowel movements. There was no history of consanguinity in the family .A
detailed history revealed similar symptoms in his sibling aged 11 years with non progressive lesion. The
child was immunized with no significant perinatal history. Development of milestones was normal.The
lesions initially started on the scalp, and spread all over the body. The child was also suffering from redness
of botheyesandmarkedphotophobia.
Local examination revealed extensive ulcero-proliferative lesion on left side of face measuring 4
x4.5 cm with purulent discharge,areas of hemorrage.with purulent discharge, areas of haemorrhage and
everted margins . Small papular lesion was seen on the rest of the face. Multiple pigmented lesions and skin
Abstract:
Xeroderma pigmentosum with squamous cell carcinoma of skin has been
infreqently reported .Is a rare autosomal recessive disease characterized by defective
DNA repair. . A seven year old boy having xeroderma pigmentosa presented with
extensive ulceration of the face . On investigation, the ulceration was found to be
squamous cell carcinoma. The details of the case are presented and its pathological
findingsarediscussed
ISSN:-2321-3485
Xeroderma Pigmentosa With Squamous Cell Carcinoma
Of Face: A Rare Case Report
ORIGINAL ARTICLE
Kalpana Baliram Rathod , Tijare Jayshree R. and Nagrale Satish H.
(MDPath) , Lecturer , Pathology department,Shri.V.N.Government Medical College,Yavatmal.
(MDPath) , Asso.Proff ,Pathology department,Shri.V.N.Government Medical College,Yavatmal.
(MDPath) , Asso.Proff.&H.O.D., Pathology department. Shri.V.N.Government Medical College,Yavatmal.
th
Vol - 1, Issue - 47, March 19 2014
Website : http://reviewofprogress.org/
DOI : 10.9780/2321-3485/1322013/74

2. freckles were noticed all over the body. There was no significant cervical lymphadenopathy. Systemic
examination including neurological functions was essentially normal. Haemogram and serum
biochemistrywas withinnormallimits.Chestradiographyandultrasonographyof abdomenwerenormal.
The swelling on the scalp region was biopsied and the histopathological diagnosis of XP was
made (Fig 1).Ten months later, the boy again presented with a swelling in the left side of face on mandibular
region partly covered by skin. Histopathological examination of mass showed features of a well
differentiated squamous cell carcinoma. The tissue was lined by dysplastic stratified squamous epithelium
showing severe dyspasia. The basement membrane was interrupted and tumour cells were seen in the sub-
epithelium. These cells were arranged diffusely, in nests and in cords. The tumour cells were highly
pleomorphic with abundant eosinophilic cytoplasm and central round to oval vesicular nuclei with
prominent nucleoli. Atypical keratotic cells and keratin pearls were also seen. Marked inflammation was
seeninthestroma(Fig 2).
The patient was offered conservative treatment with antibiotics and wound care followed by
palliativeradiotherapytotheprimarylesionassurgicalexcisionwas notfeasible.
DISCUSSION
Xeroderma pigmentosum is a rare autosomal recessive genetic disorder the incidence of
xeroderma pigmentosa is approximately 1 in 250,000 population.4 The exact genetic defects are still not
fully understood in all forms of xeroderma pigmentosa, but defective excision repair of UV induced DNA
damage is found in most individuals. Defective repair replication was later reported with dermal
5
fibroblasts,lymphocytesandconjunctivalcells.
The disease usually progresses through three stages.The first stage occurs around six months after
birth. Continous sun exposure leads to the second stage which is characterised by poikiloderma. The third
6
stage is development of solar keratosis and skin cancers. In our case, the symptoms appeared at the age of
eightmonths.Our casewas inthethirdstageof thedisease.
In XP patients, eye and neurological problems occur in nearly 80% and 20% respectively. Our
patienthadconjunctivalcongestionandphotophobia.Therewerenoneurologicalproblems.
XP under 20 years of age has a greater than 1000 fold increase risk of cutaneous basal cell
carcinoma, squamous cell carcinoma or malignant melanoma. Basal cell carcinoma is the most common
cancer found in XP patients followed by SCC particularly in conjunctiva and tip of tongue. Malignant
melanoma occurs in approx one fourth of cases. Few reports of angioma or fibrosarcoma have also been
7
noted. Our patient had squamous cell carcinoma of skin of face .The mean age for skin cancer is eight years
in patient with XP compared to sixty years in the healthy population. Our patient had squamous cell
6
carcinoma at the age of seven years.Actinic damage occurs between one and two years of age. Fewer than
40%individualswiththediseasesurvivebeyond20 yearsof age.
Cutaneous neoplasia are generally treated with electrodesiccation and curettage or by excision. In
the case reported above excision was not feasible due to the extensive lesion, multiple satellite lesions and
poor general condition. Therefore palliative radiotherapy was offered and the patient achieved adequate
palliation.
As multiple cutaneous neoplasm develop in persons with XPat a younger age, early diagnosis and
management would be life saving. Genetic counselling should be offered for families. Follow up care
should be geared to educate the patient and the parents about effective sun protection and early recognition
ofskin cancer.
REFERENCES
1.Hebra F,Kaposi M.On diseases of the skin including the exanthemata 3rd ed.London.The Men
SydenhamSocity1874;pp.252-58.
2.Sarojini PA,MalhotraYK,Bhutani LK,Kandhari KC.The de-sanctis cacchione syndrome.Indian J Derm
Vener1969;35:247.
3.Kunwar KB,Kumar S.Xeroderma pigmentosa with basal cell carcinoma .J Indian Med Assoo
1967;48:237.
4.Knaemer KH, Lee MM, Scotto J Xeroderma pigmentosum– cutaneous, ocular and neurologic
abnormalitiesin830 publishedcases.Arch Dermatol1987;123:241-50.
5.Newsome DA, Kraemer KH, Robbins JH. Repair of DNA in xeroderma pigmentosum conjunctiva.
Arch Ophthalmol1975;93:660-2.
6.ASM Moniruzzaman, MN Absar, Shamsuzzaman Sarker, Mahmudul Haque Sarker, Md Abdus Sattar,
2
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Xeroderma Pigmentosa With Squamous Cell Carcinoma Of Face: A Rare Case Report

3. Chandan Kumar Shaha, Atanu Kumar Basak, Md Khairuzzaman, Xeroderma Pigmentosum with
Squamous Cell Carcinoma:ACase Report and Literature Review, Bangladesh J Child Health 2005; Vol 29
(3):104-106.
7.A.D.Irwine, J.E.Mellerio,Genodermatoses,Rook'sTextBookof Dermatology,8 ed15.1-15.9.
Legend
Figure 1. Xeroderma Pigmentosum.
Hyperkeratotic,acanthotic epidermis with flattened rete ridges and increased melanocytes in the
basal layer.
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Xeroderma Pigmentosa With Squamous Cell Carcinoma Of Face: A Rare Case Report

4. Figure 2. Well differenciated squamous cell carcinoma.
4
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Xeroderma Pigmentosa With Squamous Cell Carcinoma Of Face: A Rare Case Report