|LETTER TO THE EDITOR
|Year : 2015 | Volume
| Issue : 4 | Page : 567
Xeroderma pigmentosum with squamous cell carcinoma of face: A rare case report of two siblings
S Jasuja, A Mathur, SS Bhakal, PS Manghera, H Malhotra
Department of Medicine, Division of Medical Oncology, SMS Medical College and Hospital, Jaipur, Rajasthan, India
|Date of Web Publication||10-Mar-2016|
Department of Medicine, Division of Medical Oncology, SMS Medical College and Hospital, Jaipur, Rajasthan
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Jasuja S, Mathur A, Bhakal S S, Manghera P S, Malhotra H. Xeroderma pigmentosum with squamous cell carcinoma of face: A rare case report of two siblings. Indian J Cancer 2015;52:567
|How to cite this URL:|
Jasuja S, Mathur A, Bhakal S S, Manghera P S, Malhotra H. Xeroderma pigmentosum with squamous cell carcinoma of face: A rare case report of two siblings. Indian J Cancer [serial online] 2015 [cited 2020 Jul 16];52:567. Available from: http://www.indianjcancer.com/text.asp?2015/52/4/567/178430
Xeroderma pigmentosum (XP) is a rare group of disorder with reported incidence in US and Europe being 1:250,000 and Japan 1:40,000 while its incidence is not significant in context to other parts of the world.
A 15-year-old female presented with progressively increasing brownish-black pigmentary skin lesions from the age of 15 months predominantly over the sun-exposed areas. At 6 years of age, the patient developed ocular symptoms also (watering, redness, and purulent discharge from eyes). On examination, the skin was pale, dry, atrophic, freckled, scaly, and rough. Discrete, multifocal brown-black hyperpigmented macules interspersed with patchy hypopigmentation were seen predominantly over the sun-exposed areas. Based on these clinical findings, the patient was diagnosed as XP.
The patient's 11-year-old brother was also diagnosed with XP based on clinical examination, who at 9 years age developed ulceroproliferative growth 5 cm × 5 cm in size on the left side of face with a central depression giving umbilicated appearance followed by (f/b) growth of approximately 3 cm × 2 cm in size on left upper cervical region a year later. Fine needle aspiration cytology done from facial growth was suggestive of squamous cell carcinoma and left cervical swelling revealed metastatic squamous cell carcinoma [Figure 1].
|Figure 1: On the left is the clinical photograph showing case 2 patient with ulceroproliferative growth on the left side of the face, approximately 5 cm × 5 cm in size, round to oval in shape with a central depression giving umbilicated appearance covering left eye along with eyelid. The photograph also shows growth of approximately 3 cm × 2 cm in size on left upper cervical region; on the right is the histopathological examination of (HPE) orbital swelling (H and E, ×400) – smear shows sheet and singly placed neoplastic squamous cells having hyperchromatic nuclei with irregular chromatin distribution and keratinized cytoplasm|
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There was no history of consanguineous marriage of parents.
Defective nucleotide excision repair of ultraviolet -induced DNA damage is detected most often. Clinical presentation comprises of dermatological, ocular, and neurological manifestations. Up to 60% of persons with XP eventually develop skin cancer  at a mean age of 8 years as was the case with the second patient reported by us. Basal cell carcinoma is mostly associated with XP in the majority of the reported cases in Indian literature, and very few patients have squamous cell carcinoma thereby signifying the rarity of our case. Cutaneous neoplasia is generally treated with curettage or by excision. However, in the case reported above, excision was not feasible due to the extensive ulceroproliferative lesion with cervical lymph node metastasis; hence, palliative radiotherapy was advised. However, unfortunately, both patients were lost to follow-up.
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Kunwar KB, Kumar S. Xeroderma pigmentosa with basal-cell carcinoma. J Indian Med Assoc 1967;48:273-4.