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E-IJD-CASE REPORT
Year : 2014  |  Volume : 59  |  Issue : 6  |  Page : 632
Basaloid squamous carcinoma of skin associated with xeroderma pigmentosum in an 8-year-old child: A rare entity


1 Department of Head and Neck Oncology, Dr. B Borooah Cancer Institute, Guwahati, Assam, India
2 Department of Pathology, Dr. B Borooah Cancer Institute, Guwahati, Assam, India

Date of Web Publication30-Oct-2014

Correspondence Address:
Tashnin Rahman
c/o Dr. A Rahman, House No 116, Gandhi Basti, Guwahati - 781 003, Assam
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.143577

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   Abstract 

Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis associated with hypersensitivity to ultraviolet (UV) light, due to defects in deoxyribonucleic acid (DNA) repair. Basaloid squamous cell carcinoma is a rare aggressive variant of squamous cell carcinoma. Patients with XP are at increased risk of developing cutaneous malignancy and are commonly associated with squamous carcinoma. We report an extremely rare case of 8-year-old child with XP along with basaloidsquamous carcinoma of skin; and review of literature related to it.


Keywords: Basaloid squamous carcinoma, cutaneous malignancy, xeroderma pigmentosum


How to cite this article:
Rahman T, Sharma JD, Krishnatreya M, Kataki AC. Basaloid squamous carcinoma of skin associated with xeroderma pigmentosum in an 8-year-old child: A rare entity. Indian J Dermatol 2014;59:632

How to cite this URL:
Rahman T, Sharma JD, Krishnatreya M, Kataki AC. Basaloid squamous carcinoma of skin associated with xeroderma pigmentosum in an 8-year-old child: A rare entity. Indian J Dermatol [serial online] 2014 [cited 2020 Aug 15];59:632. Available from: http://www.e-ijd.org/text.asp?2014/59/6/632/143577

What was known?
Malignant melanoma, basal cell carcinoma and squamous cell carcinoma of skin are commonly associated with xeroderma pigmentosum, but the aggressive variant basaloid squamous carcinoma of skin in an 8-year-old child is a rare phenomenon.



   Introduction Top


Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis characterized by hypersensitivity to ultraviolet (UV) light affecting the cutaneous, ocular and nervous systems. It results due to a defect in the nucleotide excision repair mechanism. Nucleotide excision repair mechanism is responsible for deoxyribonucleic acid (DNA) repair following UV irradiation. Defect in these genes leads to build-up of unrepaired DNA damage which is responsible for a majority of the features of XP. There is a 1000-fold increased risk of development of cutaneous and 10 to 20-fold increased risk of developing non-cutaneous malignancies. XP is characterized by photosensitivity, pigmentary changes, photophobia, and propensity to develop malignancy in sun-exposed and ocular region. [1],[2]


   Case Report Top


An 8-year-old child, known case of XP presented in our hospital according to parent's history with non-healing, rapidly growing ulcerative growth over the right eye of 4 month's duration. The patient had another raised lesion on right cheek skin for the same duration. There was history of photophobia and increased lacrimation of the left eye. The child's growth was retarded. There was no previous history of irradiation to the head and neck region. There was no history of trauma to the affected part. The child was born to non-consanguineous parents. On general examination the patient was frail and weak. The patient had dry atrophic skin with patchy hyper pigmentation all over the body presenting classical look of XP.

On local examination, the two lesions were different and distinctly apart. There was a 4 cm × 4 cm proliferative growth with areas of ulceration over the right lower eyelid occluding the eye completely [Figure 1] and mobility of the growth was restricted. The ulcerated areas bled on touching. There was loss of vision in the right eye as a result of occlusion of right eye. The patient's opposite eye had conjunctival congestion and associated with scarring of the left cornea. There was another nodular lesion on the skin of right nasolabial fold of 1.5 cm × 1.5 cm with hyper pigmented areas and small area of ulceration [Figure 1].
Figure 1: An 8-year-old male child with xeroderma pigmentosum and growth over lower eyelid and nodular lesion on nasolabial fold

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Systemic neurological examination did not reveal any abnormality. Punch biopsies were taken from the ulceroproliferative growth over the right lower eyelid and ulcerated area over the nodular lesion.

Tissue sections from the growth over the lower eyelid revealed basaloid squamous cell carcinoma with feature of both basal and squamous cell carcinoma [Figure 2]. Tissue sections from ulcerated area on nasolabial fold showed keratotic and mildly acanthotic epidermis with congested underlying tissue and no malignancy was seen. Based on histopathological examination report, the final diagnosis of basaloid squamous carcinoma of eyelid was confirmed.

The patient was planned for wide local excision of the malignant cutaneous lesion. However the parents of the child declined surgery and it was then planned for treatment with external beam radiotherapy. The patient received 30 Gy in ten fractions and response evaluated after completion of first phase of radiotherapy. There was no significant reduction of the lesion and also, there were associated adverse skin reactions like cutaneous infections and necrosis of skin. In view of serious adverse reactions and poor response to first phase of radiotherapy, further external beam radiotherapy was discontinued. The patient died within 6 months from the date of first diagnosis.
Figure 2: Photomicrograph (H and E, ×40) showing basaloid squamous carcinoma with peripheral palisading and adenoid cystic pattern

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   Discussion Top


Prevalence of XPis 1 in 250,000. [1] Basaloid squamous cell carcinoma of skin is a rare aggressive variant of squamous cell carcinoma, with a predilection for the head and neck region. The common cutaneous malignancies in patients with XP include squamous carcinoma, basal cell carcinoma, and malignant melanoma. XP with basaloid squamous cell carcinoma of skin is extremely rare and only few malignant epithelial skin cancers in children have been observed on the basis of predisposing genodermatosis. [2] Basosquamous cell carcinoma of skin is seen mostly in males and in the age group of 47-81 years (mean age: 68. 6 years). [3] However, very rarely basosquamous carcinoma of skin in children with XP has been mentioned in literature. [4] Our patient is an 8-year-old child with dermal basaloid squamous cell carcinoma and XP. High degree of suspicion is required in patients with XP for early diagnosis of associated cutaneous malignancy in the pediatric population. Due to lack of clinical suspicion of malignancy, the diagnosis was delayed and patient presented with an advanced dermal basaloid squamous cell carcinomain head and neck region. Screening procedure has been recommended in patients with genodermatosis for cutaneous malignancy and leading to early intervention. [5] There are no specific gross morphological features on clinical examination to distinguish basaloid squamous carcinoma and basosquamous carcinoma from squamous cell carcinoma and basal cell carcinoma of skin, respectively. The diagnosis can only be made after histopathological examination. In the early days, basosquamous carcinoma was considered to be a transition between basal cell carcinoma and squamous cell carcinoma. Contributions from immunohistochemical studies have suggested that it is a continuum of basal cell carcinoma and squamous cell carcinoma, where basal cell carcinoma undergoes squamous differentiation leading to development of basosquamous cell carcinoma. [6],[7] This differentiation not only alters the histologic appearance but also the biologic behavior of basosquamous carcinoma compared to that of squamous cell carcinoma with basaloid differentiation.

In the present case, external beam radiotherapy was given as an effective therapeutic alternative treatment as advocated by Ben et al.[8] The patients with XP do not have normal DNA repair mechanism, as a result of which patient may develop extreme sensitivity to radiation resulting in radiotherapy related complications. Sensitivity to radiation at the clinical as well as cellular level has been demonstrated in XP patients. [9] In the present case, the tumor was radio insensitive and the patient developed radiation induced adverse effects of skin in presence of XP.

There is no accepted system for defining high risk patients with cutaneous squamous cell carcinoma. Prognosis of cutaneous squamous cell carcinoma depends upon location of tumor, like arising in previously injured skin (burns, trauma, etc.) have an increased risk of metastasis [10],[11] with overall 5 year survival of 52%. [12] In our case there was no previous history of trauma to the affected part. Tumor characteristics like tumor diameter, depth, extension into subcutaneous tissue, and poor differentiated histology have an elevated risk of recurrence, metastasis, and death; [13] especially involvement of named nerve or diameter more than 0.1 mm. [14] Fixity of tumor is a predictor of poor prognosis for dermal basaloid squamous cell carcinoma.

 
   References Top

1.Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG. Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med 1974;80:221-48.  Back to cited text no. 1
    
2.Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987;123:241-50.  Back to cited text no. 2
    
3.Lehnerdt G, Manz D, Jahnke K, Schmitz KJ. Cutaneous basosquamous cell carcinoma. HNO 2008;56:306-11.  Back to cited text no. 3
    
4.Youssef N, Vabres P, Buisson T, Brousse N, Fraitaq S. Two unusual tumors in patient with xeroderma pigmentosum: Atypical fibroxanthoma and basosquamous carcinoma. J Cutan Pathol 1999;26:430-5.  Back to cited text no. 4
    
5.Holman JD, Dyer JA. Genodermatoses with malignant potential. Curr Opin Pediatr 2007;19:446-54.  Back to cited text no. 5
    
6.Beer TW, Shepherd P, Theaker JM. Ber EP4 and epithelial membrane antigen aid distinction of basal cell, squamous cell and basosquamous carcinomas of skin. Histopathology 2000;37:218-23.  Back to cited text no. 6
    
7.Mitushashi T, Itoh T, Shimizu Y, Ban S, Ogawa F, Hirose T, et al. Squamous cell carcinoma of skin: Dual differentiations to rare basosquamous and spindle cell variants. J Cutan Pathol 2006;33:246-52.  Back to cited text no. 7
    
8.Ben Salah H, Bahri M, Turki H, Abdelmoula M, Frikha M, Daoud J. Radiotherapy for cutaneous cancers with xeroderma pigmentosum. Cancer Radiother 2011;15:400-3.  Back to cited text no. 8
    
9.Arlett CF, Plowman PN, Rogers PB, Parris CN, Abbaszadeh F, Green MH, et al. Clinical and cellular ionizing radiation sensitivity in a patient with xeroderma pigmentosum. Br J Radiol 2006;79:510-7.  Back to cited text no. 9
    
10.Cherpelis BS, Marcusen C, Lang PG. Prognostic factors for metastasis in squamous cell carcinoma of the skin. Dermatol Surg 2002;28:268-73.  Back to cited text no. 10
    
11.Mullen JT, Feng L, Xing Y, Mansfield PF, Gershenwald JE, Lee JE, et al. Invasive squamous cell carcinoma of the skin: Defining a high-risk group. Ann Surg Oncol 2006;13:902-9.  Back to cited text no. 11
    
12.Edwards MJ, Hirsch RM, Broadwater JR, Netscher DT, Ames FC. Squamous cell carcinoma arising in previously burned or irradiated skin. Arch Surg 1989;124:115-7.  Back to cited text no. 12
    
13.Clayman GL, Lee JJ, Holsinger FC, Zhou X, Duvic M, El-Naggar AK, et al. Mortality risk from squamous cell skin cancer. J Clin Oncol 2005;23:759-65.  Back to cited text no. 13
    
14.Ross AS, Whalen FM, Elenitsas R, Xu X, Troxel AB, Schmults CD. Diameter of involved nerves predicts outcomes in cutaneous squamous cell carcinoma with perineural invasion: An investigator-blinded retrospective cohort study. Dermatol Surg 2009;35:1859-66.  Back to cited text no. 14
    

What is new?
In patients with xeroderma pigmentosum, high degree of suspicion should be raised with appearance of new skin lesions even in pediatric age groups. Early diagnosis with better prognostic indicators and wide local excision of lesions will be benefi cial. Determining the degree of radio sensitivity is important in this syndrome as radiotherapy results in serious adverse reactions of skin.


    Figures

  [Figure 1], [Figure 2]



 

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