Journal of Indian Association of Pediatric Surgeons
Journal of Indian Association of Pediatric Surgeons
                                                   Official journal of the Indian Association of Pediatric Surgeons                           
Year : 2014  |  Volume : 19  |  Issue : 3  |  Page : 185--186

Colossal squamous cell carcinoma of the face in a child with Xeroderma Pigmentosum


Raghu Shankar1, Sajid S Qureshi1, Pavan Sugoor2, Seema Kembhavi3, Prabha S Yadav4, Ramadwar Mukta5,  
1 Department of Surgical Oncology; Division of Pediatric Surgical Oncology, Tata Memorial Centre, Mumbai, Maharashtra, India
2 Department of Surgical Oncology, Tata Memorial Centre, Mumbai, Maharashtra, India
3 Department of Radiodiagnosis, Tata Memorial Centre, Mumbai, Maharashtra, India
4 Department of Surgical Oncology; Department of Plastic and Reconstructive Surgery, Tata Memorial Centre, Mumbai, Maharashtra, India
5 Department of Pathology, Tata Memorial Centre, Mumbai, Maharashtra, India

Correspondence Address:
Sajid S Qureshi
Department of Surgical Oncology, Division of Pediatric Surgical Oncology, Tata Memorial Centre, Parel - 400 012, Mumbai, Maharashtra
India




How to cite this article:
Shankar R, Qureshi SS, Sugoor P, Kembhavi S, Yadav PS, Mukta R. Colossal squamous cell carcinoma of the face in a child with Xeroderma Pigmentosum.J Indian Assoc Pediatr Surg 2014;19:185-186


How to cite this URL:
Shankar R, Qureshi SS, Sugoor P, Kembhavi S, Yadav PS, Mukta R. Colossal squamous cell carcinoma of the face in a child with Xeroderma Pigmentosum. J Indian Assoc Pediatr Surg [serial online] 2014 [cited 2021 Jan 19 ];19:185-186
Available from: https://www.jiaps.com/text.asp?2014/19/3/185/136485


Full Text

Sir,

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a defective DNA repair mechanism. But at the same time it is a well-documented premalignant condition. The risk of developing cutaneous squamous or basal cell carcinoma is several thousand folds more than the general population and the cancer develops at a mean age of 8 years, about 50 years younger than in the general population. [1],[2] Hence, early referral for surgical intervention is expected and feasible in most of the cases. However, we report a case of squamous cell carcinoma over the face of a child who presented very late with a rare and astonishingly large fungating lesion.

A 7-year-old male child presented with a proliferative growth over the right half of the face noticed since the past 5 months. On general examination, the child had freckles, erythema, hyperpigmentation, and dry skin over the face, neck, trunk and extremities with photophobia. The local examination revealed a 15 × 15 × 10 cm proliferative lesion occupying almost the entire right half of the face just sparing the eye, angle of the mouth and tragus with foul smelling purulent discharge [Figure 1]a]. Clinically, facial nerve appeared uninvolved. There was another 2 × 2 cm ulcerative lesion over the nose. Ipsilateral levels II to level V cervical lymph nodes were enlarged. Magnetic Resonance Imaging showed the involvement of superficial lobe of the parotid and the lesion was extending up to the zygoma [Figure 1]b].{Figure 1}

The child underwent a wide local excision of the lesion with a nerve sparing total parotidectomy and type 2 modified neck dissection. Resultant raw area was covered by a skin graft and the definitive reconstruction deferred for a later date in view of severely infected bed. The lesion on the bridge of nose was also excised. Histopathology revealed a poorly differentiated squamous cell carcinoma.

Described for the first time in 1870 by Moriz Kaposi, it is a rare autosomal recessive disease distributed worldwide. The incidence is about 1 in 20,000 in Japan, 1 in 250,000 in the U.S.A and approximately 2.3 per million live births in the Western Europe. It affects both the sexes equally and is frequently symptomatic in childhood. [3] Cutaneous changes usually start emerging at as early as 2 years of age.

The treatment of XP is challenging because the DNA damage is cumulative and irreversible and up to 60% of the persons with XP will eventually develop skin malignancy. [4] Early diagnosis of XP, immediate implementation of rigorous sun protection measures and surveillance for any developing cutaneous malignancy are important. Thus, the neoplasms can be detected quite early and can be dealt with well before it becomes morbid, like it did in our patient. If the child had presented early, a lesser surgical intervention would have been sufficient to address the disease. Surgical care includes complete excision of the malignancies associated with XP. [2]

The onus is on the multidisciplinary team for unremitting vigilance for the earliest signs of malignancy and appropriate surgical intervention to provide reasonably good quality of life for these individuals.

References

1Schachner LA, Hansen RC. Paediatric Dermatology. 2 nd ed. Edinburgh: Churchill Livingstone; 1995. p. 47-9.
2Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurological abnormalities in 830 published cases. Arch Dermatol 1987;123:241-50.
3Ramkumar HL, Brooks BP, Cao X, Tamura D, Digiovanna JJ, Kraemer KH, et al. Ophthalmic manifestations and histopathology of xeroderma pigmentosum: Two clinico-pathological cases and a review of the literature. Surv Ophthalmol 2011;56:348-61.
4Feller L, Wood NH, Motswaledi MH, Khammissa RA, Meyer M, Lemmer J. Xeroderma pigmentosum: A case report and review of the literature. J Prev Med Hyg 2010;51:87-91.